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C-syndroom (aandoening)
C-syndroom
trigonocefalie C-syndroom
trigonocefaliesyndroom van Opitz
OTCS
Opitz-trigonocefaliesyndroom
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
Associated morphologypremature fusie
Finding sitestructuur van sutura frontalis
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map1308
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified