Split-hand/foot malformation 5

Preferred Label : Split-hand/foot malformation 5;

Symbol : SHFM5;

CISMeF acronym : SHFM5;

Type : Phenotype or locus, molecular basis unknown;

Description : Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM5 have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting (Elliott and Evans, 2006). For additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 (183600).;

Prefixed ID : %606708;

Details

Origin ID

606708;

UMLS CUI

C1847622;

Broader ORDO disease(s)
- Isolated split hand-split foot malformation [ORDO Disease]
Currated CISMeF NLP mapping
- Split-Hand-Foot Malformation 5 [MeSH concept]
- Split-Hand-Foot Malformation 5 [MeSH Supplementary Concept]
- Split-Hand/Foot Malformation Type 5 [NCIt concept]
- split hand-foot malformation 5 [DO Concept]
DO Cross reference
- split hand-foot malformation 5 [DO Concept]
ORDO concept(s)
- Isolated split hand-split foot malformation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Split-Hand-Foot Malformation 5 [MeSH Supplementary Concept]
- Split-Hand-Foot Malformation 5 [MeSH concept]
- Split-Hand/Foot Malformation Type 5 [NCIt concept]

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