Autosomal recessive hereditary disorder	Axonal neuropathy	Chronic nervous system disorder	Developmental hereditary disorder	Genetic intellectual disability	Hereditary motor and sensory neuropathy	Hereditary optic atrophy
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Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome (disorder)
	Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
	ANOAC (axonal neuropathy, optic atrophy, cognitive deficit) syndrome Axonal neuropathy, optic atrophy, cognitive deficit syndrome
	A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure.

Id	1260129000
Status	Primitive

Clinical course

Has interpretation	Impaired
Interprets	Intellectual ability

Has interpretation	Impaired
Interprets	Adaptation behavior

Pathological process

Pathological developmental process

Associated morphology	Primary atrophy
Finding site	Optic nerve structure
Occurrence	Infancy

Finding site	Peripheral nervous system structure
Occurrence	Infancy

Finding site	Axon structure
Occurrence	Infancy

SNOMED CT to Orphanet simple map

SNOMED CT to ICD-10 extended map

Target	G60.8
Rule	TRUE
Advice	ALWAYS G60.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified