Camptodactyly 1

Preferred Label : Camptodactyly 1;

Symbol : CAMPD1;

CISMeF acronym : CAMPD1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Camptodactyly and knuckle pads;

Included titles and symbols : Streblodactyly;

Description : Camptodactyly is defined as a permanent flexion contrature of 1 or both fifth fingers at the proximal interphalangeal joints. Additional fingers might be affected, but the little finger is always involved. Usually the condition appears to be sporadic in a family, but clinical examination of relatives reveals that it is an autosomal dominant condition subject to incomplete penetrance and variable expressivity (summary by Malik et al., 2008).;

Inheritance : Autosomal dominant;

Prefixed ID : %114200;

Détails

Origin ID

114200;

UMLS CUI

C2751430;

Automatic exact mappings (from CISMeF team)
- Camptodactyly (disorder) [SNOMED CT concept]
- Camptodactyly of fingers [ORDO Disease]
- Streblodactyly [ICD-11 More detail]
Currated CISMeF NLP mapping
- camptodactyly 1 [MeSH concept]
- camptodactyly 1 [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Camptodactyly of finger [HPO term]
- Contractures of the proximal interphalangeal joints of the fingers [HPO term]
- Increased urinary taurine [HPO term]
- Joint subluxation [HPO term]
- Knee dislocation [HPO term]
ORDO concept(s)
- Camptodactyly of fingers [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- camptodactyly 1 [MeSH Supplementary Concept]
- camptodactyly 1 [MeSH concept]

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

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