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 |
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