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syndroom van syndactylie type 1, microcefalie en verstandelijke beperking (aandoening)
syndroom van syndactylie type 1, microcefalie en verstandelijke beperking
syndroom van syndactylie type 1, microcefalie en verstandelijke handicap
syndroom van Filippi
syndroom van syndactylie type 1, microcefalie en mentale retardatie
Filippi syndrome
Type 1 syndactyly, microcephaly, intellectual disability syndrome
Filippi syndrome has manifestations of microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly and teeth and hair anomalies may also be present. Transmission is autosomal recessive.
Id720954000
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van encephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified