degeneratieve aandoening	hereditaire aandoening van zenuwstelsel	hereditaire ontwikkelingsstoornis	verstandelijke beperking	X-gebonden hereditaire recessieve aandoening
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X-gebonden neurodegeneratief syndroom Hamel-type (aandoening)
	X-gebonden neurodegeneratief syndroom Hamel-type
	X-linked neurodegenerative syndrome Hamel type
	This syndrome is an X-linked neurodegenerative disorder with characteristics of intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12.

Id	718847005
Status	Primitive

Associated morphology	degeneratieve afwijking
Finding site	structuur van systema nervosum

Pathological process

proces van pathologische ontwikkeling

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	G31.8
Term	Overige gespecificeerde degeneratieve ziekten van zenuwstelsel

SNOMED CT to Orphanet simple map

85336

SNOMED CT to ICD-10 extended map

Target	G31.8
Rule	TRUE
Advice	ALWAYS G31.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified