congenitale ankyloblefaron	genetische verstandelijke beperking	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis	microftalmie	X-gebonden hereditaire recessieve aandoening
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syndroom van microftalmie, ankyloblefaron en verstandelijke beperking (aandoening)
	syndroom van microftalmie, ankyloblefaron en verstandelijke beperking
	syndroom van microftalmie, ankyloblefaron en verstandelijke handicap syndroom van microftalmie, ankyloblefaron en mentale retardatie MCOPS4 syndromale microftalmie type 4
	Microphthalmia with ankyloblepharon and intellectual disability syndrome
	Syndromic microphthalmia type 4
	Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.

Id	717222003
Status	Primitive

Associated morphology	adhesie
Finding site	structuur van vrije rand van palpebra
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	afwijkend klein
Finding site	gehele bulbus oculi
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q11.2
Term	Microftalmie

Target	Q10.3
Term	Overige congenitale misvormingen van ooglid

Target	F79.9
Term	Niet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen

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