Developmental hereditary disorder	Dominant hereditary optic atrophy	Intellectual disability
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Optic atrophy, intellectual disability syndrome (disorder)
	Optic atrophy, intellectual disability syndrome
	BBSOAS - Bosch Boonstra Schaaf optic atrophy syndrome Bosch Boonstra Schaaf optic atrophy syndrome
	A rare hereditary syndromic intellectual disability with characteristics of developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oro motor dysfunction, seizures and autism spectrum disorder. Dysmorphic facial features are variable and nonspecific. Caused by heterozygous mutation in the NR2F1 gene on chromosome 5q15.
	syndroom van opticusatrofie en verstandelijke beperking
	syndroom van opticusatrofie en verstandelijke handicap BBSOAS opticusatrofiesyndroom van Bosch-Boonstra-Schaaf syndroom van opticusatrofie en mentale retardatie

Id	770723007
Status	Primitive

Associated morphology	Primary atrophy
Finding site	Optic nerve structure

Pathological process

Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	H47.2
Rule	TRUE
Advice	ALWAYS H47.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified