orphanet-rare-disease-classification
type: CodeSystem
node role: treeRoot
id:
  v: orphanet-rare-disease-classification
text:
  status:
    v: generated
  div:
    v: Narrativa gerada: CodeSystem orphanet-rare-disease-classification Propriedades Este sistema de códigos define as seguintes propriedades para os seus conceitos Nome Código URI Tipo Descrição Parent parent http://hl7.org/fhir/concept-properties#parent code Parent concept in the classification hierarchy disorderType disorderType https://www.orpha.net/ORDO/Orphanet_C019 string Type of Orphanet disorder (Disease, Clinical group, Category, Etiological subtype, Clinical subtype, Malformation syndrome, etc.) Conceitos Este sistema de código https://www.orpha.net/ORDO/Orphanet_ define o seguinte códigos numa hierarquia Is-A: Código Ecrã Parent disorderType 97929 Rare cardiac disease Category 167848 Rare cardiomyopathy 97929 Category 247 Inherited arrhythmogenic cardiomyopathy 167848, 506225, 98054 Clinical group 34217 Naxos disease 247, 307804, 434809 Disease 217656 Inherited isolated arrhythmogenic cardiomyopathy 247, 300755 Disease 293888 Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant 217656 Clinical subtype 293899 Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant 217656 Clinical subtype 293910 Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant 217656 Clinical subtype 217569 Rare hypertrophic cardiomyopathy 167848, 506225 Category 99739 Rare familial disorder with hypertrophic cardiomyopathy 217569, 98054 Category 217572 Glycogen storage disease with hypertrophic cardiomyopathy 99739 Category 439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease 217572, 79201 Disease 365 Glycogen storage disease due to acid maltase deficiency 206959, 217572, 217581, 217638, 309337, 79201 Disease 308552 Glycogen storage disease due to acid maltase deficiency, infantile onset 365 Clinical subtype 420429 Glycogen storage disease due to acid maltase deficiency, late-onset 365 Clinical subtype 366 Glycogen storage disease due to glycogen debranching enzyme deficiency 101940, 206959, 217572,…
url:
  v: https://www.orpha.net/ORDO/Orphanet_
version:
  v: 1.0.0
name:
  v: OrphanetRareDiseaseClassification
title:
  v: Orphanet Rare Disease Classification
status:
  v: active
experimental:
  v: false
date:
  v: 2025-12-09
publisher:
  v: HL7 Portugal
contact:
  name:
    v: HL7 Portugal
  telecom:
    system:
      v: url
    value:
      v: http://hl7.pt
  telecom:
    system:
      v: email
contact:
  name:
    v: HL7 Portugal
  telecom:
    system:
      v: email
    use:
      v: work
description:
  v: Orphanet classification of rare diseases. Contains all entities from the 34 Orphanet classification trees, with hierarchical parent-child relationships. Source: Orphadata CC BY 4.0 (https://www.orphadata.com) Codes are Orphanet ORPHA numbers (e.g., ORPHA:98050).
jurisdiction:
  coding:
    system:
      v: urn:iso:std:iso:3166
    code:
      v: PT
    display:
      v: Portugal
copyright:
  v: © Orphanet 2025. CC BY 4.0.
hierarchy meaning:
  v: is-a
content:
  v: complete
count:
  v: 9907
property:
  code:
    v: parent
  uri:
    v: http://hl7.org/fhir/concept-properties#parent
  description:
    v: Parent concept in the classification hierarchy
  type:
    v: code
property:
  code:
    v: disorderType
  uri:
    v: https://www.orpha.net/ORDO/Orphanet_C019
  description:
    v: Type of Orphanet disorder (Disease, Clinical group, Category, Etiological subtype, Clinical subtype, Malformation syndrome, etc.)
  type:
    v: string
concept:
  code:
    v: 97929
  display:
    v: Rare cardiac disease
  property:
    code:
      v: disorderType
    value: string
      v: Category
concept:
  code:
    v: 167848
  display:
    v: Rare cardiomyopathy
  property:
    code:
      v: parent
    value: code
      v: 97929
  property:
    code:
      v: disorderType
    value: string
      v: Category
concept:
  code:
    v: 247
  display:
    v: Inherited arrhythmogenic cardiomyopathy
  property:
    code:
      v: parent
    value: code
      v: 167848
  property:
    code:
      v: parent
    value: code
      v: 506225
  property:
    code:
      v: parent
    value: code
      v: 98054
  property:
    code:
      v: disorderType
    value: string
      v: Clinical group
concept:
  code:
    v: 34217
  display:
    v: Naxos disease
  property:
    code:
      v: parent
    value: code
      v: 247
  property:
    code:
      v: parent
    value: code
      v: 307804
  property:
    code:
      v: parent
    value: code
      v: 434809
  property:
    code:
      v: disorderType
    value: string
      v: Disease
concept:
  code:
    v: 217656
  display:
    v: Inherited isolated arrhythmogenic cardiomyopathy
  property:
    code:
      v: parent
    value: code
      v: 247
  property:
    code:
      v: parent
    value: code
      v: 300755
  property:
    code:
      v: disorderType
    value: string
      v: Disease
concept:
  code:
    v: 293888
  display:
    v: Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
  property:
    code:
      v: parent
    value: code
      v: 217656
  property:
    code:
      v: disorderType
    value: string
      v: Clinical subtype
concept:
  code:
    v: 293899
  display:
    v: Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
  property:
    code:
      v: parent
    value: code
      v: 217656
  property:
    code:
      v: disorderType
    value: string

string
v: Clinical subtype

code:
  v: 293910
display:
  v: Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
property:
  code:
    v: parent
  value: code
    v: 217656
property:
  code:
    v: disorderType
  value: string
    v: Clinical subtype

code:
  v: 217569
display:
  v: Rare hypertrophic cardiomyopathy
property:
  code:
    v: parent
  value: code
    v: 167848
property:
  code:
    v: parent
  value: code
    v: 506225
property:
  code:
    v: disorderType
  value: string
    v: Category

code:
  v: 99739
display:
  v: Rare familial disorder with hypertrophic cardiomyopathy
property:
  code:
    v: parent
  value: code
    v: 217569
property:
  code:
    v: parent
  value: code
    v: 98054
property:
  code:
    v: disorderType
  value: string
    v: Category

code:
  v: 217572
display:
  v: Glycogen storage disease with hypertrophic cardiomyopathy
property:
  code:
    v: parent
  value: code
    v: 99739
property:
  code:
    v: disorderType
  value: string
    v: Category

code:
  v: 439854
display:
  v: Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
property:
  code:
    v: parent
  value: code
    v: 217572
property:
  code:
    v: parent
  value: code
    v: 79201
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 365
display:
  v: Glycogen storage disease due to acid maltase deficiency
property:
  code:
    v: parent
  value: code
    v: 206959
property:
  code:
    v: parent
  value: code
    v: 217572
property:
  code:
    v: parent
  value: code
    v: 217581
property:
  code:
    v: parent
  value: code
    v: 217638
property:
  code:
    v: parent
  value: code
    v: 309337
property:
  code:
    v: parent
  value: code
    v: 79201
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 308552
display:
  v: Glycogen storage disease due to acid maltase deficiency, infantile onset
property:
  code:
    v: parent
  value: code
    v: 365
property:
  code:
    v: disorderType
  value: string
    v: Clinical subtype

code:
  v: 420429
display:
  v: Glycogen storage disease due to acid maltase deficiency, late-onset
property:
  code:
    v: parent
  value: code
    v: 365
property:
  code:
    v: disorderType
  value: string
    v: Clinical subtype

code:
  v: 366
display:
  v: Glycogen storage disease due to glycogen debranching enzyme deficiency
property:
  code:
    v: parent
  value: code
    v: 101940
property:
  code:
    v: parent
  value: code
    v: 206959
property:
  code:
    v: parent
  value: code
    v: 217572
property:
  code:
    v: parent
  value: code
    v: 79201
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 34587
display:
  v: Danon disease
property:
  code:
    v: parent
  value: code
    v: 206959
property:
  code:
    v: parent
  value: code
    v: 217572
property:
  code:
    v: parent
  value: code
    v: 217607
property:
  code:
    v: parent
  value: code
    v: 309337
property:
  code:
    v: parent
  value: code
    v: 611314
property:
  code:
    v: parent
  value: code
    v: 79201
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 137625
display:
  v: Glycogen storage disease due to muscle and heart glycogen synthase deficiency
property:
  code:
    v: parent
  value: code
    v: 217572
property:
  code:
    v: parent
  value: code
    v: 308520
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 217581
display:
  v: Lysosomal disease with hypertrophic cardiomyopathy
property:
  code:
    v: parent
  value: code
    v: 99739
property:
  code:
    v: disorderType
  value: string
    v: Category

code:
  v: 118
display:
  v: Beta-mannosidosis
property:
  code:
    v: parent
  value: code
    v: 207018
property:
  code:
    v: parent
  value: code
    v: 217581
property:
  code:
    v: parent
  value: code
    v: 611314
property:
  code:
    v: parent
  value: code
    v: 79215
property:
  code:
    v: parent
  value: code
    v: 93448
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 349
display:
  v: Fucosidosis
property:
  code:
    v: parent
  value: code
    v: 217581
property:
  code:
    v: parent
  value: code
    v: 611314
property:
  code:
    v: parent
  value: code
    v: 79215
property:
  code:
    v: parent
  value: code
    v: 93448
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 324
display:
  v: Fabry disease
property:
  code:
    v: parent
  value: code
    v: 139009
property:
  code:
    v: parent
  value: code
    v: 183478
property:
  code:
    v: parent
  value: code
    v: 207018
property:
  code:
    v: parent
  value: code
    v: 217581
property:
  code:
    v: parent
  value: code
    v: 217638
property:
  code:
    v: parent
  value: code
    v: 371442
property:
  code:
    v: parent
  value: code
    v: 506213
property:
  code:
    v: parent
  value: code
    v: 568047
property:
  code:
    v: parent
  value: code
    v: 79225
property:
  code:
    v: parent
  value: code
    v: 79379
property:
  code:
    v: parent
  value: code
    v: 93593
property:
  code:
    v: parent
  value: code
    v: 98644
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 580
display:
  v: Mucopolysaccharidosis type 2
property:
  code:
    v: parent
  value: code
    v: 217581
property:
  code:
    v: parent
  value: code
    v: 611314
property:
  code:
    v: parent
  value: code
    v: 68385
property:
  code:
    v: parent
  value: code
    v: 79213
property:
  code:
    v: parent
  value: code
    v: 79388
property:
  code:
    v: parent
  value: code
    v: 93448
property:
  code:
    v: parent
  value: code
    v: 98578
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 217085
display:
  v: Mucopolysaccharidosis type 2, severe form
property:
  code:
    v: parent
  value: code
    v: 580
property:
  code:
    v: disorderType
  value: string
    v: Clinical subtype

code:
  v: 217093
display:
  v: Mucopolysaccharidosis type 2, attenuated form
property:
  code:
    v: parent
  value: code
    v: 580
property:
  code:
    v: disorderType
  value: string
    v: Clinical subtype

code:
  v: 93473
display:
  v: Hurler syndrome
property:
  code:
    v: parent
  value: code
    v: 102283
property:
  code:
    v: parent
  value: code
    v: 217581
property:
  code:
    v: parent
  value: code
    v: 217638
property:
  code:
    v: parent
  value: code
    v: 579
property:
  code:
    v: parent
  value: code
    v: 611327
property:
  code:
    v: disorderType
  value: string
    v: Clinical subtype

code:
  v: 93476
display:
  v: Hurler-Scheie syndrome
property:
  code:
    v: parent
  value: code
    v: 217581
property:
  code:
    v: parent
  value: code
    v: 579
property:
  code:
    v: disorderType
  value: string
    v: Clinical subtype

code:
  v: 217587
display:
  v: Mitochondrial disease with hypertrophic cardiomyopathy
property:
  code:
    v: parent
  value: code
    v: 99739
property:
  code:
    v: disorderType
  value: string
    v: Category

code:
  v: 550
display:
  v: MELAS
property:
  code:
    v: parent
  value: code
    v: 206966
property:
  code:
    v: parent
  value: code
    v: 217587
property:
  code:
    v: parent
  value: code
    v: 217613
property:
  code:
    v: parent
  value: code
    v: 225700
property:
  code:
    v: parent
  value: code
    v: 225703
property:
  code:
    v: parent
  value: code
    v: 254776
property:
  code:
    v: parent
  value: code
    v: 519343
property:
  code:
    v: parent
  value: code
    v: 522508
property:
  code:
    v: parent
  value: code
    v: 611314
property:
  code:
    v: parent
  value: code
    v: 68385
property:
  code:
    v: parent
  value: code
    v: 90642
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 551
display:
  v: MERRF
property:
  code:
    v: parent
  value: code
    v: 206966
property:
  code:
    v: parent
  value: code
    v: 217587
property:
  code:
    v: parent
  value: code
    v: 217613
property:
  code:
    v: parent
  value: code
    v: 225700
property:
  code:
    v: parent
  value: code
    v: 225703
property:
  code:
    v: parent
  value: code
    v: 254776
property:
  code:
    v: parent
  value: code
    v: 441434
property:
  code:
    v: parent
  value: code
    v: 68385
property:
  code:
    v: parent
  value: code
    v: 98261
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 1349
display:
  v: Mitochondrial DNA-related cardiomyopathy and hearing loss
property:
  code:
    v: parent
  value: code
    v: 217587
property:
  code:
    v: parent
  value: code
    v: 254776
property:
  code:
    v: disorderType
  value: string
    v: Malformation syndrome

code:
  v: 1369
display:
  v: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
property:
  code:
    v: parent
  value: code
    v: 217587
property:
  code:
    v: parent
  value: code
    v: 254830
property:
  code:
    v: parent
  value: code
    v: 352312
property:
  code:
    v: parent
  value: code
    v: 522520
property:
  code:
    v: parent
  value: code
    v: 522548
property:
  code:
    v: parent
  value: code
    v: 98641
property:
  code:
    v: parent
  value: code
    v: 98683
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 99718
display:
  v: Leber plus disease
property:
  code:
    v: parent
  value: code
    v: 217587
property:
  code:
    v: parent
  value: code
    v: 217613
property:
  code:
    v: parent
  value: code
    v: 254776
property:
  code:
    v: parent
  value: code
    v: 98671
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 314637
display:
  v: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
property:
  code:
    v: parent
  value: code
    v: 217587
property:
  code:
    v: parent
  value: code
    v: 35696
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 319678
display:
  v: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
property:
  code:
    v: parent
  value: code
    v: 217587
property:
  code:
    v: parent
  value: code
    v: 35656
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 324525
display:
  v: Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
property:
  code:
    v: parent
  value: code
    v: 183592
property:
  code:
    v: parent
  value: code
    v: 217587
property:
  code:
    v: parent
  value: code
    v: 254776
property:
  code:
    v: parent
  value: code
    v: 93593
property:
  code:
    v: parent
  value: code
    v: 93603
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 352563
display:
  v: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
property:
  code:
    v: parent
  value: code
    v: 217587
property:
  code:
    v: parent
  value: code
    v: 35696
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 369913
display:
  v: Combined oxidative phosphorylation defect type 17
property:
  code:
    v: parent
  value: code
    v: 217587
property:
  code:
    v: parent
  value: code
    v: 35696
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 444013
display:
  v: Combined oxidative phosphorylation defect type 23
property:
  code:
    v: parent
  value: code
    v: 217587
property:
  code:
    v: parent
  value: code
    v: 35696
property:
  code:
    v: parent
  value: code
    v: 611314
property:
  code:
    v: parent
  value: code
    v: 68385
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 496790
display:
  v: Ocular anomalies-axonal neuropathy-developmental delay syndrome
property:
  code:
    v: parent
  value: code
    v: 207018
property:
  code:
    v: parent
  value: code
    v: 217587
property:
  code:
    v: parent
  value: code
    v: 254837
property:
  code:
    v: parent
  value: code
    v: 441434
property:
  code:
    v: parent
  value: code
    v: 611314
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 457185
display:
  v: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
property:
  code:
    v: parent
  value: code
    v: 217587
property:
  code:
    v: parent
  value: code
    v: 35656
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 570491
display:
  v: QRSL1-related combined oxidative phosphorylation defect
property:
  code:
    v: parent
  value: code
    v: 217587
property:
  code:
    v: parent
  value: code
    v: 35696
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 656279
display:
  v: 1p36.33 duplication syndrome
property:
  code:
    v: parent
  value: code
    v: 217587
property:
  code:
    v: parent
  value: code
    v: 254837
property:
  code:
    v: parent
  value: code
    v: 264431
property:
  code:
    v: parent
  value: code
    v: 68385
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 217591
display:
  v: Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
property:
  code:
    v: parent
  value: code
    v: 99739
property:
  code:
    v: disorderType
  value: string
    v: Category

code:
  v: 746
display:
  v: Mitochondrial trifunctional protein deficiency
property:
  code:
    v: parent
  value: code
    v: 206966
property:
  code:
    v: parent
  value: code
    v: 207018
property:
  code:
    v: parent
  value: code
    v: 217591
property:
  code:
    v: parent
  value: code
    v: 309115
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 159
display:
  v: Carnitine-acylcarnitine translocase deficiency
property:
  code:
    v: parent
  value: code
    v: 217591
property:
  code:
    v: parent
  value: code
    v: 309130
property:
  code:
    v: parent
  value: code
    v: 611314
property:
  code:
    v: disorderType
  value: string
    v: Disease

code:
  v: 5
display:
  v: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
property:
  code:
    v: parent
  value: code
    v: 181402
property:
  code:
    v: parent
  value: code
    v: 207018
property:
  code:
    v: parent
  value: code
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code:
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display:
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property:
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    v: parent
  value: code
    v: 218439
property:
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    v: disorderType
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code:
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display:
  v: Idiopathic neonatal atrial flutter
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  value: code
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property:
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    v: disorderType
  value: string
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code:
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display:
  v: Incessant infant ventricular tachycardia
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  value: code
    v: 218439
property:
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    v: disorderType
  value: string
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code:
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display:
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  value: code
    v: 300766
property:
  code:
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  value: code
    v: 79389
property:
  code:
    v: parent
  value: code
    v: 97929
property:
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    v: parent
  value: code
    v: 98054
property:
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    v: disorderType
  value: string
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code:
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display:
  v: Cardiogenic shock
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    v: parent
  value: code
    v: 97929
property:
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  value: string
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code:
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display:
  v: Idiopathic spontaneous coronary artery dissection
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    v: parent
  value: code
    v: 97929
property:
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  value: string
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code:
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display:
  v: Postcardiotomy right ventricular failure
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    v: parent
  value: code
    v: 97929
property:
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  value: string
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code:
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display:
  v: Rare developmental defect during embryogenesis
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    v: disorderType
  value: string
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code:
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display:
  v: Hydrops fetalis
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    v: parent
  value: code
    v: 93890
property:
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    v: disorderType
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    v: Malformation syndrome

code:
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display:
  v: Non-immune hydrops fetalis
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  value: code
    v: 1041
property:
  code:
    v: parent
  value: code
    v: 183530
property:
  code:
    v: disorderType
  value: string
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code:
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display:
  v: Immune hydrops fetalis
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  value: code
    v: 1041
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  value: string
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display:
  v: Renal or urinary tract malformation
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  value: code
    v: 93626
property:
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    v: parent
  value: code
    v: 93890
property:
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    v: disorderType
  value: string
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code:
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display:
  v: Non-syndromic renal or urinary tract malformation
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  value: code
    v: 506213
property:
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    v: parent
  value: code
    v: 93545
property:
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    v: disorderType
  value: string
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code:
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display:
  v: Multicystic dysplastic kidney
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    v: parent
  value: code
    v: 357506
property:
  code:
    v: parent
  value: code
    v: 93546
property:
  code:
    v: disorderType
  value: string
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code:
  v: 97363
display:
  v: Unilateral multicystic dysplastic kidney
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    v: parent
  value: code
    v: 1851
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    v: disorderType
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code:
  v: 97364
display:
  v: Bilateral multicystic dysplastic kidney
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  code:
    v: parent
  value: code
    v: 1851
property:
  code:
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  value: string
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code:
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display:
  v: Exstrophy-epispadias complex
property:
  code:
    v: parent
  value: code
    v: 108977
property:
  code:
    v: parent
  value: code
    v: 182124
property:
  code:
    v: parent
  value: code
    v: 357506
property:
  code:
    v: parent
  value: code
    v: 93546
property:
  code:
    v: disorderType
  value: string
    v: Malformation syndrome

code:
  v: 93928
display:
  v: Isolated epispadias
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    v: parent
  value: code
    v: 322
property:
  code:
    v: disorderType
  value: string
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code:
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display:
  v: Cloacal exstrophy
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  code:
    v: parent
  value: code
    v: 117573
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  code:
    v: parent
  value: code
    v: 322
property:
  code:
    v: disorderType
  value: string
    v: Clinical subtype

code:
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display:
  v: Classic bladder exstrophy
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    v: parent
  value: code
    v: 322
property:
  code:
    v: disorderType
  value: string
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code:
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display:
  v: Renal tubular dysgenesis
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  code:
    v: parent
  value: code
    v: 93546
property:
  code:
    v: disorderType
  value: string
    v: Malformation syndrome

code:
  v: 97367
display:
  v: Renal tubular dysgenesis due to twin-twin transfusion
property:
  code:
    v: parent
  value: code
    v: 3033
property:
  code:
    v: disorderType
  value: string
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code:
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display:
  v: Drug-related renal tubular dysgenesis
property:
  code:
    v: parent
  value: code
    v: 3033
property:
  code:
    v: disorderType
  value: string
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code:
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display:
  v: Renal tubular dysgenesis of genetic origin
property:
  code:
    v: parent
  value: code
    v: 3033
property:
  code:
    v: parent
  value: code
    v: 357506
property:
  code:
    v: disorderType
  value: string
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code:
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display:
  v: Medullary sponge kidney
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  code:
    v: parent
  value: code
    v: 357506
property:
  code:
    v: parent
  value: code
    v: 93546
property:
  code:
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code:
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display:
  v: Oligomeganephronia
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  code:
    v: parent
  value: code
    v: 93546
property:
  code:
    v: disorderType
  value: string
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code:
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display:
  v: Duplication of urethra
property:
  code:
    v: parent
  value: code
    v: 182124
property:
  code:
    v: parent
  value: code
    v: 357506
property:
  code:
    v: parent
  value: code
    v: 93546
property:
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    v: disorderType
  value: string
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code:
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display:
  v: Congenital primary megaureter
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    v: parent
  value: code
    v: 182124
property:
  code:
    v: parent
  value: code
    v: 357506
property:
  code:
    v: parent
  value: code
    v: 93546
property:
  code:
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  value: string
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code:
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  v: Primary megaureter, adult-onset form
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    v: parent
  value: code
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property:
  code:
    v: disorderType
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code:
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display:
  v: Congenital primary megaureter, obstructed form
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  value: code
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  code:
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code:
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  v: Congenital primary megaureter, refluxing form
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    v: disorderType
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code:
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display:
  v: Congenital primary megaureter, nonrefluxing and unobstructed form
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    v: parent
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    v: disorderType
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code:
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  v: Congenital primary megaureter, refluxing and obstructed form
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    v: parent
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code:
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  code:
    v: parent
  value: code
    v: 93546
property:
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code:
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display:
  v: Renal hypoplasia, unilateral
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  value: code
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    v: disorderType
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code:
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display:
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code:
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  code:
    v: parent
  value: code
    v: 93546
property:
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code:
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  v: Renal dysplasia, unilateral
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    v: parent
  value: code
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code:
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  v: Renal dysplasia, bilateral
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    v: parent
  value: code
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property:
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    v: disorderType
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code:
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display:
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    v: parent
  value: code
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property:
  code:
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code:
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  v: Unilateral congenital megacalycosis
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  value: code
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code:
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  v: Congenital bilateral megacalycosis
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  value: code
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code:
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  value: code
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property:
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code:
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display:
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property:
  code:
    v: parent
  value: code
    v: 93546
property:
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code:
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display:
  v: Renal agenesis, bilateral
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  value: code
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  code:
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code:
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display:
  v: Renal agenesis, unilateral
property:
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  value: code
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code:
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  v: Fetal lower urinary tract obstruction
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  value: code
    v: 182124
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  code:
    v: parent
  value: code
    v: 357506
property:
  code:
    v: parent
  value: code
    v: 93546
property:
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code:
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  v: Prune belly syndrome
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  value: code
    v: 435365
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code:
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display:
  v: Atresia of urethra
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  value: code
    v: 435365
property:
  code:
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code:
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  v: Posterior urethral valve
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  value: code
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property:
  code:
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code:
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  v: Anterior urethral valve
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  value: code
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  v: Congenital urachal anomaly
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  code:
    v: parent
  value: code
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property:
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code:
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  v: Urachal cyst
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  value: code
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code:
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  v: Patent urachus
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  value: code
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  v: Urachal sinus
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  value: code
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  value: code
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code:
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  v: Familial vesicoureteral reflux
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  value: code
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  code:
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  value: code
    v: 182124
property:
  code:
    v: parent
  value: code
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property:
  code:
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code:
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  v: Supernumerary kidney
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  value: code
    v: 506213
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  value: code
    v: 93545
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  code:
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  value: code
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  code:
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  value: code
    v: 325638
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  value: code
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  value: code
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  value: code
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  code:
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  value: code
    v: 98642
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  v: CHARGE syndrome
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  code:
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  value: code
    v: 156532
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  code:
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  value: code
    v: 165707
property:
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  value: code
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  code:
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  value: code
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  code:
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  value: code
    v: 399846
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  code:
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  value: code
    v: 611327
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  code:
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  value: code
    v: 90642
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  value: code
    v: 98655
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  v: 22q11.2 deletion syndrome
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  value: code
    v: 117573
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  code:
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  value: code
    v: 138047
property:
  code:
    v: parent
  value: code
    v: 139036
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  code:
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  value: code
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  value: code
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property:
  code:
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  value: code
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  code:
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  value: code
    v: 611327
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  code:
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  value: code
    v: 139021
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  code:
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  value: code
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  code:
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  value: code
    v: 183570
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  code:
    v: parent
  value: code
    v: 240371
property:
  code:
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  value: code
    v: 252190
property:
  code:
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  value: code
    v: 498454
property:
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  value: code
    v: 611327
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  value: code
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  value: code
    v: 98655
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  code:
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  value: string
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    v: parent
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  value: string
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  v: WAGR syndrome
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  code:
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property:
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  code:
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    v: 325638
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  value: code
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property:
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    v: parent
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    v: 611327
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    v: parent
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