720633009: Syndactyly type 7 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Disorder of extremity\...
• \Disorder of digit\Congenital anomaly of digit\Syndactyly\Cenani Lenz syndrome
• \Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Cenani Lenz syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cenani Lenz syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cenani Lenz syndrome
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Syndactyly\Cenani Lenz syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Cenani Lenz syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Cenani Lenz syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Cenani Lenz syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Cenani Lenz syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Cenani Lenz syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Cenani Lenz syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3321602018	Cenani Lenz syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3321603011	Cenani Lenz syndactyly	en	Synonym	Active	Case sensitive	SNOMED CT core
3321604017	Cenani syndactyly	en	Synonym	Active	Case sensitive	SNOMED CT core
3321605016	Syndactyly type 7	en	Synonym	Active	Case insensitive	SNOMED CT core
3321607012	Syndactyly type 7 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321606015	A congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs. Fewer than 30 cases have been described, the majority of cases occurred in related families. The syndrome affects both the upper and lower limbs but, in general, the latter are less severely affected. Associated malformations (renal hypoplasia and vertebral and hemi-vertebral anomalies) have occasionally been reported. Mild facial dysmorphism has been described in isolated cases. The disease is transmitted as an autosomal recessive trait. Homozygous or compound heterozygous mutations of the LRP4 gene (11p12-p11.2) have been identified.	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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