autosomaal recessieve hereditaire aandoening	chronische encefalopathie	corticale blindheid	hereditaire aandoening van visueel systeem	hereditaire aandoening van zenuwstelsel	microcefalie
\|	\|	\|	\|	\|	\|

syndroom van microcefalie, epileptische aanvallen, corticale blindheid en ontwikkelingsachterstand (aandoening)
	syndroom van microcefalie, epileptische aanvallen, corticale blindheid en ontwikkelingsachterstand
	syndroom van microcefalie, convulsies, corticale blindheid en ontwikkelingsachterstand syndroom van microcefalie, insulten, corticale blindheid en ontwikkelingsachterstand
	Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
	A rare genetic neuro-ophthalmological syndrome with characteristics of postnatal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.

Id	1172900005
Status	Primitive

Clinical course

Finding site

structuur van visuele cortex

Has interpretation	onder referentiebereik
Interprets	hoofdomtrek

Finding site	structuur van hoofd
Occurrence	zuigelingenperiode

SNOMED CT to Orphanet simple map

477814

SNOMED CT to ICD-10 extended map

Target	Q02
Rule	TRUE
Advice	ALWAYS Q02 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	G98
Rule	TRUE
Advice	ALWAYS G98
Correlation	SNOMED CT source code to target map code correlation not specified