Symphalangism, distal

Preferred Label : Symphalangism, distal;

CISMeF acronym : SYM2;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : SYM2;

Description : Distal symphalangism is ankylosis or rigidity of the distal interphalangeal joints of the hands and/or the feet (summary by Poush, 1991).;

Inheritance : Autosomal dominant;

Prefixed ID : %185700;

Détails

Origin ID

185700;

UMLS CUI

C1861401;

Automatic exact mappings (from CISMeF team)
- Distal symphalangism [ICD-11 More detail]
- Distal symphalangism of hands [HPO term]
Currated CISMeF NLP mapping
- Distal symphalangism [HPO term]
- Distal symphalangism [ORDO Disease]
- symphalangism, distal [MeSH concept]
- symphalangism, distal [MeSH Supplementary Concept]
HPO term(s)
- Absent dorsal skin creases over affected joints [HPO term]
- Anonychia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Craniosynostosis [HPO term]
- Distal foot symphalangism [HPO term]
- Distal symphalangism of hands [HPO term]
- Small nail [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Distal symphalangism [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Distal symphalangism [HPO term]
- Distal symphalangism [ORDO Disease]
- symphalangism, distal [MeSH Supplementary Concept]
- symphalangism, distal [MeSH concept]

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