Autosomal recessive hereditary disorder	Congenital anomaly of visual system	Congenital microcephaly	Developmental hereditary disorder	Hereditary disorder of the visual system	Intellectual disability	Multiple malformation syndrome with facial defects as major feature
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Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)
	Autosomal recessive chorioretinopathy and microcephaly syndrome
	Autosomal recessive chorioretinopathy, microcephaly, intellectual disability syndrome
	A rare neuro-ophthalmological disease with characteristics of severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophthalmia, retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, simplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.
	syndroom van autosomaal recessieve chorioretinopathie en microcefalie
	syndroom van autosomaal recessieve chorioretinopathie, microcefalie en verstandelijke beperking syndroom van autosomaal recessieve chorioretinopathie, microcefalie en verstandelijke handicap syndroom van autosomaal recessieve chorioretinopathie, microcefalie en mentale retardatie

Id	770404004
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Structure of visual system
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Congenital smallness
Finding site	Head structure
Occurrence	Congenital
Pathological process	Pathological developmental process

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

Has interpretation	Below reference range
Interprets	Birth head circumference

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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