Waardenburg Syndrome Type 2

Preferred Label : Waardenburg Syndrome Type 2;

NCIt synonyms : Waardenburg Syndrome Type II;

NCIt definition : A rare autosomal dominant syndrome caused by mutations in the MITF and SNAI2 genes. It has all of the features of Waardenburg syndrome Type 1 except dystopia canthorum.;

Details

Origin ID

C75009;

UMLS CUI

C2700265;

Currated CISMeF NLP mapping
- Waardenburg syndrome type 2 [Disease (Nov.)]
- Waardenburg syndrome type 2 [ICD-11 More detail]
- Waardenburg syndrome type 2 [MeSH concept]
- Waardenburg syndrome type 2 [ORDO Disease]
- Waardenburg syndrome type 2 (disorder) [SNOMED CT concept]
- waardenburg syndrome type 2 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Waardenburg syndrome type 2 [ORDO Disease]
- Waardenburg syndrome type 2 [MeSH concept]
- Waardenburg syndrome type 2 [Disease (Nov.)]
- Waardenburg syndrome type 2 (disorder) [SNOMED CT concept]
- waardenburg syndrome type 2 [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- KITLG Gene [NCIt concept]
- MITF Gene [NCIt concept]
- SNAI2 Gene [NCIt concept]
- SOX10 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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