Autosomal dominant hereditary disorder	Central obesity	Colobomatous microphthalmia	Congenital anomaly of endocrine gonad	Developmental hereditary disorder	Genetic intellectual disability	Genetic obesity disorder	Hereditary disorder of endocrine system	Hereditary disorder of the visual system	Multiple system malformation syndrome	Reproductive system hereditary disorder
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Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome (disorder)
	Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
	A rare syndromic microphthalmia characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay.

Id	776204008
Status	Primitive

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

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

Associated morphology	Morphologically abnormal structure
Finding site	Gonadal endocrine structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Has interpretation	Above reference range
Interprets	Body weight measure

Has interpretation	Impaired
Interprets	Intellectual ability

Has interpretation	Impaired
Interprets	Adaptation behavior

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.8
Term	Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd

SNOMED CT to ICD-10 extended map

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified