Malignant hyperphenylalaninaemia due to tetrahydrobiopterin deficiency

Preferred Label : Malignant hyperphenylalaninaemia due to tetrahydrobiopterin deficiency;

ICD-11 definition : This condition is characterized by mildly or strongly elevated levels of the amino acid phenylalanine in the blood. This diagnosis is due to a rare metabolic disorder that increases the blood levels of phenylalanine.;

ICD-11 synonym : Malignant hyperphenylalaninaemia due to BH4 deficiency;

Details

Origin ID

1659163210;

CISMeF manual mappings
- BH4-deficient hyperphenylalaninemia A [DO Concept]
- Hyperphenylalaninemia due to tetrahydrobiopterin deficiency [ORDO Disease]
Validated automatic mappings to BTNT
- 6 pyruvoyl tetrahydropterin synthase deficiency [Disease (Nov.)]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [ORDO Disease]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [MeSH Supplementary Concept]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [MeSH concept]
- Hyperphenylalaninemia, bh4-deficient, a [OMIM Phenotype]

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