Waardenburg Syndrome Type 1

Preferred Label : Waardenburg Syndrome Type 1;

NCIt synonyms : Waardenburg Syndrome Type I;

NCIt definition : A rare autosomal dominant syndrome caused by mutations in the PAX3 gene. It is characterized by hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes.;

Details

Origin ID

C75008;

UMLS CUI

C1847800;

Automatic exact mappings (from CISMeF team)
- waardenburg syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Waardenburg syndrome type 1 [DO Concept]
- Waardenburg syndrome type 1 [ICD-11 More detail]
- Waardenburg syndrome type 1 [ORDO Disease]
- Waardenburg syndrome type 1 (disorder) [SNOMED CT concept]
- Waardenburg syndrome, type 1 [OMIM Phenotype]
- waardenburg syndrome type 1 [MeSH concept]
DO Cross reference
- Waardenburg syndrome type 1 [DO Concept]
- Waardenburg's syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Waardenburg syndrome type 1 [ORDO Disease]
- Waardenburg syndrome type 1 [DO Concept]
- Waardenburg syndrome type 1 (disorder) [SNOMED CT concept]
- Waardenburg syndrome, type 1 [OMIM Phenotype]
- waardenburg syndrome type 1 [MeSH concept]
Validated automatic mappings to NTBT
- Waardenburg syndrome [Disease (Nov.)]
- Waardenburg's syndrome [DO Concept]
- waardenburg syndrome [MeSH Descriptor]
- waardenburg syndrome [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PAX3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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