spinocerebellaire ataxie	X-gebonden sideroblastische anemie
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X-gebonden sideroblastische anemie met spinocerebellaire ataxie (aandoening)
	X-gebonden sideroblastische anemie met spinocerebellaire ataxie
	XLSA-A syndroom van Pagon-Bird-Detter
	X-linked sideroblastic anemia with spinocerebellar ataxia
	A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.

Id	719816006
Status	Primitive

Has interpretation	onder referentiebereik
Interprets	telling van erytrocyten

Has interpretation	onder referentiebereik
Interprets	Measurement of total hemoglobin concentration

Finding site	erytrocyt
Occurrence	congenitaal

Associated morphology	degeneratieve afwijking
Finding site	structuur van medulla spinalis

Associated morphology	degeneratieve afwijking
Finding site	structuur van cerebellum

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	D64.0
Term	Hereditaire sideroblastische anemie

Target	G11.1
Term	Vroeg optredende cerebellaire ataxie

SNOMED CT to Orphanet simple map

2802

SNOMED CT to ICD-10 extended map

Target	D64.0
Rule	TRUE
Advice	ALWAYS D64.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	G11.1
Rule	TRUE
Advice	ALWAYS G11.1
Correlation	SNOMED CT source code to target map code correlation not specified