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syndroom van verstandelijke beperking, faciale dysmorfie en malformatie van hand (aandoening)
syndroom van verstandelijke beperking, faciale dysmorfie en malformatie van hand
syndroom van mentale retardatie, faciale dysmorfie en malformatie van hand
syndroom van verstandelijke handicap, faciale dysmorfie en malformatie van hand
Intellectual disability, facial dysmorphism, hand anomalies syndrome
A rare syndromic intellectual disability disorder with characteristics of moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly) and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed.
Id773416006
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van hand
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified