Autosomal recessive retinitis pigmentosa	Cardiovascular system hereditary disorder	Cerebral ischemia	Congenital cardiovascular disorder	Developmental hereditary disorder	Genetic intellectual disability	Global developmental delay	Hereditary disorder of nervous system	Leukoencephalopathy	Multiple malformation syndrome with facial defects as major feature	Neurodevelopmental delay
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Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder)
	Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
	A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.

Id	771476007
Status	Primitive

Finding site	Cerebrovascular system structure
Occurrence	Congenital

Finding site	Cerebral white matter structure
Occurrence	Congenital

Associated morphology	Dystrophy
Finding site	Retinal structure
Occurrence	Congenital

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

Finding site

Blood vessel structure

Has interpretation	Impaired
Interprets	Intellectual ability

Has interpretation	Impaired
Interprets	Adaptation behavior

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.8
Term	Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd

SNOMED CT to ICD-10 extended map

Target	I67.8
Rule	TRUE
Advice	ALWAYS I67.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified