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Jawad-syndroom (aandoening)
Jawad-syndroom
Kelly-syndroom
microcefalie met mentale retardatie en anomalieën van digiti
JWDS
microcefalie met verstandelijke beperking en anomalieën van vingers en/of tenen
syndroom van Jawad
microcefalie met verstandelijke handicap en anomalieën van vingers en/of tenen
Jawad syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white cafe au lait-like spots on the skin of hands and feet are also associated. There is evidence this disease is caused by homozygous mutation in the RBBP8 gene on chromosome 18q11.2.
Id771470001
StatusPrimitive
Associated morphologyabnormale ontwikkeling
Finding sitestructuur van extremiteit
Occurrencecongenitaal
Associated morphologycongenitale kleinheid
Finding sitestructuur van encephalon
Occurrencecongenitaal
Associated morphologyabnormale ontwikkeling
Finding sitestructuur van aangezicht
Occurrencecongenitaal
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