congenitale afwijking van neus	Genetic intellectual disability	hereditaire ontwikkelingsstoornis	polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk
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syndroom van blefaronasofaciale malformatie (aandoening)
	syndroom van blefaronasofaciale malformatie
	syndroom van Pashayan-Prozansky syndroom van Pashayan
	Blepharonasofacial malformation syndrome
	Pashayan syndrome Pashayan Prozansky syndrome
	Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.

Id	717913006
Status	Primitive

Associated morphology	morfologische afwijking
Finding site	structuur van neus
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

1252

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