Syndactyly type 5 (disorder) | | Syndactyly type 5 | | A very rare congenital limb malformation with characteristics of postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. So far, less than ten reports have been described in the literature. Soft tissue syndactyly (involving the third and fourth fingers and the second and third toes) may be present. The locus associated with SD5 maps to 2q31-q32. Mutations in the HOXD13 gene may be causative. The condition is inherited as an autosomal dominant trait. | | syndactylie type 5 | | post-axiale syndactylie met metacarpale synostose syndactylie met osseuze fusie van metacarpalen
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| Id | 719159004 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | Target | Q70.0 | Rule | TRUE | Advice | ALWAYS Q70.0 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | Q70.2 | Rule | TRUE | Advice | ALWAYS Q70.2 | Correlation | SNOMED CT source code to target map code correlation not specified |
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