719159004: Syndactyly type 5 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Disorder of extremity\...
• \Disorder of digit\Congenital anomaly of digit\Syndactyly\Syndactyly type 5
• \Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Syndactyly type 5
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Syndactyly type 5
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Syndactyly type 5
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Syndactyly\Syndactyly type 5
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Syndactyly type 5
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Syndactyly type 5
• \Disease\Developmental disorder\Developmental hereditary disorder\Syndactyly type 5
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Syndactyly type 5

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3315203014	Syndactyly type 5 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3315204015	Syndactyly type 5	en	Synonym	Active	Case insensitive	SNOMED CT core
3315206018	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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