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craniosynostose Herrmann-Opitz-type (aandoening)
craniosynostose Herrmann-Opitz-type
Craniosynostosis Herrmann Opitz type
A rare bone development disorder with characteristics of intellectual disability, short stature, turribrachycephaly, facial dysmorphism (severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (including syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.
Id763684005
StatusPrimitive
Associated morphologypremature fusie
Finding sitestructuur van sutura cranii
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ75.0
TermCraniosynostose
SNOMED CT to Orphanet simple map2145
SNOMED CT to ICD-10 extended map
TargetQ75.0
RuleTRUE
AdviceALWAYS Q75.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified