Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate

Preferred Label : Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the TP63 gene, encoding tumor protein 63. It is characterized by congenital ectodermal dysplasia, ankyloblepharon filiforme adnatum, and cleft lip/palate.;

Details

Origin ID

C157576;

UMLS CUI

C0406709;

CISMeF manual mappings
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome [ORDO Disease]
- ankyloblepharon-ectodermal defects-cleft lip/palate syndrome [DO Concept]
Currated CISMeF NLP mapping
- Ankyloblepharon - ectodermal defects - cleft lip or palate [ICD-11 More detail]
- Ankyloblepharon-ectodermal defects-cleft lip/palate [OMIM Phenotype]
- Hay-Wells syndrome [MeSH concept]
- Hay-Wells syndrome [PASCAL descriptor]
- Hay-Wells syndrome [MeSH Supplementary Concept]
- Hay-Wells syndrome of ectodermal dysplasia (disorder) [SNOMED CT concept]
- hay-wells syndrome of ectodermal dysplasia [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- AEC syndrome [MedDRA LLT]
- Ankyloblepharon - ectodermal defects - cleft lip or palate [ICD-11 More detail]
- Ankyloblepharon-ectodermal defects-cleft lip/palate [OMIM Phenotype]
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome [MedDRA LLT]
- Hay-Wells syndrome [MeSH concept]
- Hay-Wells syndrome [MeSH Supplementary Concept]
- Hay-Wells syndrome [PASCAL descriptor]
- Hay-Wells syndrome [MedDRA LLT]
- Hay-Wells syndrome of ectodermal dysplasia (disorder) [SNOMED CT concept]
- hay-wells syndrome of ectodermal dysplasia [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- TP63 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients