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C-syndroom (aandoening)
C-syndroom
OTCS
Opitz-trigonocefaliesyndroom
trigonocefalie C-syndroom
trigonocefaliesyndroom van Opitz
C syndrome
Trigonocephaly C syndrome
A rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. The etiology of C syndrome is still unknown. Although most of the reported patients are sporadic, rare cases of familial occurrence have been described.
Id715409005
StatusPrimitive
Associated morphologyafwijkende vorm
Finding sitestructuur van os frontale
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified