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congenitale pontocerebellaire hypoplasie type 11 (aandoening)
congenitale pontocerebellaire hypoplasie type 11
congenitale PCH11
pontocerebellaire hypoplasie door TBC1D23-mutatie
Congenital pontocerebellar hypoplasia type 11
PCH11 - pontocerebellar hypoplasia type 11
Pontocerebellar hypoplasia due to TBC1D23 mutation
A form of pontocerebellar hypoplasia characterized by microcephaly, severe global developmental delay and intellectual disability, dysmorphic facial features, cerebellar syndrome, and pontocerebellar hypoplasia on brain imaging. Behavioral abnormalities are frequently observed. Other reported manifestations include seizures, ocular anomalies, recurrent respiratory infections, and thin or absent corpus callosum, among others.
Id1300188000
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
Has interpretationonder referentiebereik
Interpretshoofdomtrek
Associated morphologyhypoplasie
Finding sitestructuur van cerebellum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van pons
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to ICD-10 extended map
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified