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
Id41283003
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteStructure of nervous system
OccurrenceCongenital
Pathological processPathological developmental process
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0
CorrelationSNOMED CT source code to target map code correlation not specified