Synpolydactyly

Preferred Label : Synpolydactyly;

NCIt definition : A rare genetic disorder characterized by malformations in the hands and feet. The abnormalities include increased number of fingers and toes and fusion of digits into one large digit.;

Details

Origin ID

C75003;

UMLS CUI

C2699746;

Automatic exact mappings (from CISMeF team)
- Syndactyly type 2 [ICD-11 More detail]
- homeobox D13 [HGNC gene]
- homeobox D13 [ORDO Gene]
Currated CISMeF NLP mapping
- Syndactyly type 2 [ORDO Disease]
- Syndactyly type 2 (disorder) [SNOMED CT concept]
- syndactyly, type 2 [MeSH Supplementary Concept]
- synpolydactyly [DO Concept]
- synpolydactyly [Disease (Nov.)]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Syndactyly type 2 [ORDO Disease]
- Syndactyly type 2 (disorder) [SNOMED CT concept]
- Syndactyly, type 2 [MeSH concept]
- Synpolydactyly 1 [OMIM Phenotype]
- syndactyly, type 2 [MeSH Supplementary Concept]
- synpolydactyly [DO Concept]
- synpolydactyly [Disease (Nov.)]
Validated automatic mappings to BTNT
- Syndactyly, type 2 [MeSH concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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