autosomaal dominante hereditaire aandoening	congenitale macrocefalie	hereditaire ontwikkelingsstoornis	polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk	polymalformatief syndroom met vroege overgroei
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syndroom van overgroei, macrocefalie en faciale dysmorfie (aandoening)
	syndroom van overgroei, macrocefalie en faciale dysmorfie
	Overgrowth, macrocephaly, facial dysmorphism syndrome
	RNF135 (ring finger protein 135) related overgrowth syndrome Ring finger protein 135 related overgrowth syndrome
	This syndrome has characteristics of tall stature, learning difficulties and facial dysmorphism. So far, it has been described in six families. The syndrome is caused by mutations in the RNF135 (ring finger protein 135) gene.

Id	722122000
Status	Primitive

Associated morphology	vergroting
Finding site	structuur van hoofd
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	boven referentiebereik
Interprets	hoofdomtrek

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.3
Term	Congenitale gestoorde-ontwikkelingssyndromen met vroege versterkte groei

SNOMED CT to Orphanet simple map

137634

SNOMED CT to ICD-10 extended map

Target	Q87.3
Rule	TRUE
Advice	ALWAYS Q87.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified