autosomaal recessieve hereditaire aandoening	genetische verstandelijke beperking	hereditaire ontwikkelingsstoornis	polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk
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syndroom van agenesie van corpus callosum, blefarofimose en Pierre Robin-sequentie (aandoening)
	syndroom van agenesie van corpus callosum, blefarofimose en Pierre Robin-sequentie
	syndroom van Toriello-Carey
	Toriello Carey syndrome
	Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.

Id	722477003
Status	Primitive

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

3338

SNOMED CT to ICD-10 extended map

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified