Coloboma of eye	Microphthalmos
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Microphthalmos co-occurrent with congenital ocular coloboma (disorder)
	Colobomatous microphthalmia
	Microphthalmia with colobomatous cyst Microphthalmos co-occurrent with congenital ocular coloboma
	A developmental disorder of the eye with manifestation of unilateral or bilateral microphthalmia associated with ocular coloboma.
	microftalmie gelijktijdig met congenitaal coloboom van oog
	microftalmie gelijktijdig met aangeboren coloboom van oculus

Id	715771008
Status	Defined

Associated morphology	Developmental failure of fusion
Finding site	Eye structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Congenital smallness
Finding site	Entire eye
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q11.2
Rule	TRUE
Advice	ALWAYS Q11.2
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q13.0
Rule	TRUE
Advice	ALWAYS Q13.0 \| MAPPED FOLLOWING WHO GUIDANCE
Correlation	SNOMED CT source code to target map code correlation not specified

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Bilateral microphthalmos with congenital coloboma

Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome

X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome