autosomaal recessieve hereditaire aandoening	congenitale afwijking van bot van aangezicht	congenitale dysplasie van extremiteit	dysostose	faciale dysplasie	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis	polymalformatief syndroom met defect van aangezicht en extremiteit als voornaamst kenmerk
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acrofaciale dysostose Kennedy-Teebi-type (aandoening)
	acrofaciale dysostose Kennedy-Teebi-type
	syndroom van Kennedy-Teebi
	Acrofacial dysostosis Kennedy Teebi type
	Kennedy Teebi syndrome
	Reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay.

Id	720427009
Status	Primitive

Associated morphology	dysplasie
Finding site	structuur van bot van aangezicht
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	dysplasie
Finding site	botstructuur van extremiteit
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

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

64542

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