aangeboren defect van stofwisseling	autosomaal recessieve hereditaire aandoening	enzymopathie	hereditaire tyrosinemie
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tyrosinemie type 2 (aandoening)
	tyrosinemie type 2
	Dit betekent dat je lichaam een bepaalde stof niet goed kan afbreken. Hierdoor hoopt deze stof zich op in je lichaam. Dit kan voor problemen zorgen.
	Tyrosinemia type 2
	Tyrosinemia type II Hypertyrosinemia, Oregon type Richner syndrome Hypertyrosinemia, Richner-Hanhart type Keratosis palmoplantaris with corneal dystrophy Tyrosinemia due to tyrosine aminotransferase deficiency Persistent hypertyrosinemia TAT-gene related hypertyrosinemia Richner Hanhart type Oculocutaneous tyrosinemia Richner-Hanhart syndrome Tyrosine transaminase deficiency Tyrosinemia without hepatorenal dysfunction Hereditary hypertyrosinemia, type II
	A rare inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.

Id	4887000
Status	Primitive

Occurrence

Due to

deficiëntie van tyrosinetransaminase

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E70.2
Term	Stoornissen van tyrosinemetabolisme

SNOMED CT to Orphanet simple map

28378

SNOMED CT to ICD-10 extended map

Target	E70.2
Rule	TRUE
Advice	ALWAYS E70.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified