autosomaal dominante hereditaire aandoening
congenitale afwijking van centraal zenuwstelsel
hereditaire aandoening van zenuwstelsel
hereditaire ontwikkelingsstoornis
polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk
verstandelijke beperking
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cerebro-oculonasaal syndroom (aandoening)
cerebro-oculonasaal syndroom
Cerebrooculonasal syndrome
Cerebro-oculo-nasal syndrome
Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.
Id
720855003
Status
Primitive
Associated morphology
morfologische afwijking
Finding site
structuur van centraal zenuwstelsel
Occurrence
congenitaal
Pathological process
proces van pathologische ontwikkeling
Associated morphology
morfologische afwijking
Finding site
structuur van aangezicht
Occurrence
congenitaal
Pathological process
proces van pathologische ontwikkeling
Has interpretation
gestoord
Interprets
intellectueel vermogen
Has interpretation
gestoord
Interprets
Adaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
Target
Q87.0
Term
Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan
SNOMED CT to Orphanet simple map
66625
SNOMED CT to ICD-10 extended map
Target
Q87.0
Rule
TRUE
Advice
ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation
SNOMED CT source code to target map code correlation not specified
