Waardenburg-Shah syndrome

ICD-11 code : LD2H.3;

Preferred Label : Waardenburg-Shah syndrome;

ICD-11 definition : In this syndrome the phenotype includes not only the classical features of Waardenburg syndrome but also Hirschsprung disease. It may be caused by mutations in SOX10, EDN3 or EDNRB genes.;

ICD-11 synonym : Waardenburg syndrome type 4A;

Details

Origin ID

1420151003;

Currated CISMeF NLP mapping
- Waardenburg Shah syndrome [Disease (Nov.)]
- Waardenburg Shah syndrome (disorder) [SNOMED CT concept]
- Waardenburg Syndrome Type 4 [NCIt concept]
- Waardenburg syndrome type 4A [DO Concept]
- Waardenburg syndrome, type 4 [MeSH concept]
- Waardenburg syndrome, type 4a [OMIM Phenotype]
- Waardenburg-Shah syndrome [ORDO Disease]
- waardenburg syndrome, type 4 [MeSH Supplementary Concept]
ICD-10 Mapping
- Other specified congenital malformation syndromes, not elsewhere classified [ICD-10 Sub-category]

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