Brachydactyly, type a4

Preferred Label : Brachydactyly, type a4;

Symbol : BDA4;

CISMeF acronym : BDA4;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Brachymesophalangy II and V; Temtamy type brachydactyly;

Inheritance : Autosomal dominant;

Prefixed ID : %112800;

Details

Origin ID

112800;

UMLS CUI

C1862139;

CISMeF manual mappings
- Brachydactyly type A4 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Brachydactyly type A4 [ICD-11 More detail]
- Brachydactyly type A4 [ORDO Disease]
- Brachymesophalangy 2 and 5 [MeSH concept]
- Type A4 brachydactyly [HPO term]
- brachydactyly type A4 [DO Concept]
- brachymesophalangy 2 and 5 [MeSH Supplementary Concept]
DO Cross reference
- brachydactyly type A4 [DO Concept]
HPO term(s)
- Aplasia of the middle phalanges of the toes [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital talipes calcaneovalgus [HPO term]
- Hypoplasia of the middle phalanges of the hand [HPO term]
- Short middle phalanx of fingers 2 and 5 [HPO term]
- Short middle phalanx of the 2nd finger [HPO term]
- Short middle phalanx of the 5th finger [HPO term]
- Talipes calcaneovalgus [HPO term]
- Type A brachydactyly [HPO term]
Not associated HPO term(s)
- Growth abnormality [HPO term]
ORDO concept(s)
- Brachydactyly type A4 [ORDO Disease]
See also inter- (CISMeF)
- brachydactyly type A2 [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Brachydactyly type A4 [ORDO Disease]
- Brachydactyly type A4 [ICD-11 More detail]
- Brachydactyly type A4 (disorder) [SNOMED CT concept]
- Brachymesophalangy 2 and 5 [MeSH concept]
- Type A4 brachydactyly [HPO term]
- brachydactyly type A4 [DO Concept]
- brachymesophalangy 2 and 5 [MeSH Supplementary Concept]

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