cerebrale degeneratie	hereditaire aandoening van bewegingsapparaat	hereditaire degeneratieve aandoening van centraal zenuwstelsel	hereditaire ontwikkelingsstoornis	leukencefalopathie	metafysaire chondrodysplasie	X-gebonden hereditaire recessieve aandoening
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syndroom van leukencefalopathie met metafysaire dyschondroplasie (aandoening)
	syndroom van leukencefalopathie met metafysaire dyschondroplasie
	leuko-encefalopathie-metafysaire chondrodysplasie-syndroom leukencefalopathie-metafysaire dyschondroplasie-syndroom
	Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
	The association of leukoencephalopathy and metaphyseal chondrodysplasia has been reported in four men from a three-generation family. Onset manifests by spastic paraplegia at the age of 2, followed by tremor, ataxia, optic atrophy, and spastic tetraparesis. Transmission is X-linked and the gene responsible of the disease may be located at Xq25-q27.

Id	719405005
Status	Primitive

Associated morphology	degeneratieve afwijking
Finding site	structuur van substantia alba van cerebrum

Associated morphology	dysplasie
Finding site	botstructuur
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Interprets

meetbare observatie betreffende lengte en/of groei

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	G11.4
Term	Hereditaire spastische paraplegie

SNOMED CT to Orphanet simple map

83629

SNOMED CT to ICD-10 extended map

Target	G11.4
Rule	TRUE
Advice	ALWAYS G11.4 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified