alfathalassemie	congenitale anemie	X-gebonden hereditaire recessieve aandoening
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syndroom van alfathalassemie en X-gebonden verstandelijke beperking (aandoening)
	syndroom van alfathalassemie en X-gebonden verstandelijke beperking
	ATR-X-syndroom syndroom van alfathalassemie en X-gebonden mentale retardatie alfathalassemie-X-gebonden intellectuele achterstand-syndroom syndroom van alfathalassemie en X-gebonden verstandelijke handicap syndroom van alfathalassemie en X-gebonden intellectuele achterstand
	Alpha thalassemia X-linked intellectual disability syndrome
	Alpha thalassemia X-linked intellectual deficit
	A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia.

Id	715342005
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

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	D56.0
Term	Alfa-thalassemie

Target	Q98.8
Term	Overige gespecificeerde geslachtschromosoomafwijkingen, mannelijk fenotype

SNOMED CT to ICD-10 extended map

Target	D56.0
Rule	TRUE
Advice	ALWAYS D56.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified