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syndactylie type 7 (aandoening)
syndactylie type 7
Cenani-syndactylie
syndroom van Cenani-Lenz
Cenani Lenz syndrome
Cenani syndactyly
Syndactyly type 7
Cenani Lenz syndactyly
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.
Id720633009
StatusPrimitive
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified