Autosomal recessive hereditary disorder	Developmental hereditary disorder	Genetic intellectual disability	Hereditary degenerative disease of central nervous system	Leukodystrophy
\|	\|	\|	\|	\|

Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (disorder)
	RARS-related autosomal recessive hypomyelinating leukodystrophy
	Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy
	A rare, genetic leukodystrophy characterized by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination.

Id	1220600004
Status	Primitive

Pathological process

Pathological developmental process

Associated morphology	Myelin sheath alteration
Finding site	Myelinated nerve fiber structure

Associated morphology	Dystrophy
Finding site	White matter structure of brain and spinal cord

Has interpretation	Impaired
Interprets	Adaptation behavior

Has interpretation	Impaired
Interprets	Intellectual ability

SNOMED CT to Orphanet simple map

SNOMED CT to ICD-10 extended map

Target	E75.2
Rule	TRUE
Advice	ALWAYS E75.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified