autosomaal dominante hereditaire aandoening	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis	microftalmie
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syndromale microftalmie type 5 (aandoening)
	syndromale microftalmie type 5
	syndromale microftalmie door OTX2-mutatie
	Syndromic microphthalmia type 5
	Syndromic microphthalmia due to orthodenticle homeobox 2 mutation Syndromic microphthalmia due to OTX2 mutation
	Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

Id	718761007
Status	Primitive

Associated morphology	afwijkend klein
Finding site	gehele bulbus oculi
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	Q11.2
Term	Microftalmie

SNOMED CT to Orphanet simple map

178364

SNOMED CT to ICD-10 extended map

Target	Q11.2
Rule	TRUE
Advice	ALWAYS Q11.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified