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715952000: Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3304233015 Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304234014 Waardenburg syndrome co-occurrent with Hirschsprung disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304235010 Waardenburg Shah syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304236011 Waardenburg Hirschsprung syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304237019 Shah Waardenburg syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304238012 Waardenburg syndrome type 4 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304239016 The association of Waardenburg syndrome and Hirschsprung disease. Patients present in the neonatal period with pigmentary anomalies (including white forelock, white eyebrows and eyelashes, white skin patches and pigmentary anomalies of the irides) in association with intestinal obstruction. Neurosensorial deafness is common and early, and may be unilateral. Psychomotor development is normal. Three disease-causing genes have been identified so far: EDNRB (13q22.3) encoding the endothelin-B receptor, EDN3 (20q13.32) encoding an endothelin receptor ligand and SOX10 (22q13.1) encoding the SOX10 transcription factor. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) morphologie associée (attribut) hypertrophie true Inferred relationship Some 2
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) morphologie associée (attribut) Hypopigmentation true Inferred relationship Some 4
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) morphologie associée (attribut) dilatation true Inferred relationship Some 1
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 5
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 6
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) localisation d'une constatation (attribut) Structure of peripheral part of autonomic nervous system (body structure) true Inferred relationship Some 7
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 7
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 7
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) est un(e) (attribut) syndrome de Waardenburg (trouble) true Inferred relationship Some
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) est un(e) (attribut) Hirschsprung's disease true Inferred relationship Some
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) est un(e) (attribut) Hereditary disorder of nervous system false Inferred relationship Some
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) localisation d'une constatation (attribut) Parasympathetic nervous system structure false Inferred relationship Some
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) localisation d'une constatation (attribut) Autonomic nerve structure true Inferred relationship Some 5
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) localisation d'une constatation (attribut) Colon structure false Inferred relationship Some 6
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) survenue (attribut) congénital true Inferred relationship Some 7
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) survenue (attribut) congénital false Inferred relationship Some 8
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 6
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) localisation d'une constatation (attribut) Colon structure false Inferred relationship Some 7
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 8
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 8
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) morphologie associée (attribut) Congenital hypertrophy false Inferred relationship Some 7
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) est un(e) (attribut) Inherited autonomic nervous system disorder (disorder) true Inferred relationship Some
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 1
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) localisation d'une constatation (attribut) Large intestine part true Inferred relationship Some 1
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) localisation d'une constatation (attribut) Large intestine part true Inferred relationship Some 2
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) morphologie associée (attribut) Congenital hypertrophy false Inferred relationship Some 1
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 2
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) localisation d'une constatation (attribut) oreille true Inferred relationship Some 3
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 4
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) localisation d'une constatation (attribut) oreille false Inferred relationship Some 4
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) morphologie associée (attribut) Congenital hypopigmentation false Inferred relationship Some 3
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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