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syndroom van microcefalie, brachydactylie en kyfoscoliose (aandoening)
syndroom van microcefalie, brachydactylie en kyfoscoliose
syndroom van Viljoen-Kallis-Voges
Microcephalus with brachydactyly and kyphoscoliosis syndrome
Viljoen Kallis Voges syndrome
Microcephaly with brachydactyly and kyphoscoliosis syndrome
This syndrome has characteristics of profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.
Id719378009
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van hoofd
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