Congenital anomaly of nervous system
Multiple malformation syndrome with unusual brain and/or neuromuscular findings
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Cerebro-oculo-facio-skeletal syndrome (disorder)
Cerebro-oculo-facio-skeletal syndrome
COFS - Cerebro-oculo-facio-skeletal syndrome
Pena-Shokeir syndrome type 2
COFS syndrome
CAMAK - Cerebro-oculo-facio-skeletal syndrome
CAMFAK - Cerebro-oculo-facio-skeletal syndrome
cerebro-oculofacioskeletaal syndroom
CAMFAK-syndroom
Pena-Shokeir-syndroom type 2
COFS-syndroom
syndroom van cataract, microcefalie, artrogrypose en kyfose
syndroom van Pena-Shokeir type 2
CAMAK-syndroom
syndroom van cataract, microcefalie, groeifalen en kyfoscoliose
Id41283003
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteStructure of nervous system
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0
CorrelationSNOMED CT source code to target map code correlation not specified