Triphalangeal thumbs with brachyectrodactyly

Preferred Label : Triphalangeal thumbs with brachyectrodactyly;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal dominant;

Prefixed ID : %190680;

Details

Origin ID

190680;

UMLS CUI

C1860804;

Automatic exact mappings (from CISMeF team)
- Triphalangeal thumbs - brachyectrodactyly [ICD-11 More detail]
Currated CISMeF NLP mapping
- Triphalangeal thumbs brachyectrodactyly [MeSH concept]
- Triphalangeal thumbs-brachyectrodactyly syndrome [ORDO Disease]
- carnevale hernandez castillo syndrome [MeSH Supplementary Concept]
- triphalangeal thumbs brachyectrodactyly [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Short 2nd finger [HPO term]
- Short 3rd toe [HPO term]
- Split foot [HPO term]
- Split hand [HPO term]
- Triphalangeal thumb [HPO term]
ORDO concept(s)
- Triphalangeal thumbs-brachyectrodactyly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Triphalangeal thumb with brachyectrodactyly syndrome (disorder) [SNOMED CT concept]
- Triphalangeal thumbs brachyectrodactyly [MeSH concept]
- Triphalangeal thumbs-brachyectrodactyly syndrome [ORDO Disease]
- triphalangeal thumbs brachyectrodactyly [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients