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syndroom van hypoplasie van corpus callosum, verstandelijke beperking, geadduceerde digiti I, spasticiteit en hydrocefalie (aandoening)
syndroom van hypoplasie van corpus callosum, verstandelijke beperking, geadduceerde digiti I, spasticiteit en hydrocefalie
L1-syndroom
L1CAM-syndroom
syndroom van hypoplasie van corpus callosum, mentale retardatie, geadduceerde duimen, spasticiteit en hydrocefalie
syndroom van hypoplasie van corpus callosum, verstandelijke handicap, geadduceerde duimen, spasticiteit en hydrocefalie
syndroom van hypoplasie van corpus callosum, verstandelijke beperking, geadduceerde duimen, spasticiteit en hydrocefalie
CRASH-syndroom
L1 syndrome
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome
CRASH syndrome
A mild to severe congenital X-linked developmental disorder with hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. Primarily affects males. Affected males have varying degrees of hydrocephalus ranging from subclinical to severe. Intellectual deficit ranges from mild to severe. Adducted thumbs are a characteristic feature of the syndrome, present in about 50% of cases. Caused by mutations in the L1CAM gene (Xq28) encoding the L1 cell adhesion molecule that is expressed mainly in the developing nervous system. Inherited in an X-linked manner.
Id716996008
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van corpus callosum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ04.8
RuleTRUE
AdviceALWAYS Q04.8
CorrelationSNOMED CT source code to target map code correlation not specified
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