Van der Woude Syndrome

Preferred Label : Van der Woude Syndrome;

NCIt definition : A rare autosomal dominant syndrome caused by mutations in the IRF6 gene. It is characterized by a cleft palate and/or pits on the lower lip. Other signs and symptoms include absent teeth, palate and tongue deformities.;

Détails

Origin ID

C74986;

UMLS CUI

C0175697;

Automatic exact mappings (from CISMeF team)
- Congenital malformations of lips, not elsewhere classified [ICD-10 Sub-category (who)]
- Congenital malformations of lips, not elsewhere classified [ICD-10 Sub-category]
Currated CISMeF NLP mapping
- Van Der Woude syndrome [ICD-11 More detail]
- Van der Woude syndrome [PASCAL descriptor]
- Van der Woude syndrome [DO Concept]
- Van der Woude syndrome [MeSH concept]
- Van der Woude syndrome [ORDO Disease]
- Van der Woude syndrome (disorder) [SNOMED CT concept]
- Van der woude syndrome 1 [OMIM Phenotype]
- van der woude syndrome [MeSH Supplementary Concept]
- van der woude syndrome [SNOMED Notion]
DO Cross reference
- Van der Woude syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Van der Woude syndrome [ORDO Disease]
- Van der Woude syndrome [MeSH concept]
- Van der Woude syndrome [PASCAL descriptor]
- Van der Woude syndrome [DO Concept]
- Van der Woude syndrome (disorder) [SNOMED CT concept]
- Van der woude syndrome 1 [OMIM Phenotype]
- van der woude syndrome [MeSH Supplementary Concept]
- van der woude syndrome [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- IRF6 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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