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Congenital pontocerebellar hypoplasia type 12 (disorder)
Congenital pontocerebellar hypoplasia type 12
PCH12 - pontocerebellar hypoplasia type 12
COASY gene related pontocerebellar hypoplasia
A lethal form of pontocerebellar hypoplasia with characteristics of prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported.
Id1300190004
StatusPrimitive
Has interpretationverlaagd
Interprets'range of motion' van gewricht
Has interpretationonder referentiebereik
Interpretshoofdomtrek
Associated morphologyhypoplasie
Finding sitestructuur van cerebellum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van medulla spinalis
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van pons
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyverandering in groei
Finding sitestructuur van hoofd
Occurrencefoetale periode
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