6-pyruvoyl-tetrahydropterin synthase deficiency

Preferred Label : 6-pyruvoyl-tetrahydropterin synthase deficiency;

MeSH note : PROM mutation in 6-pyruvoyl-tetrahydropterin synthase;

MeSH synonym : hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; PTS deficiency; HPABH4A; hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, due to PTS deficiency; hyperphenylalaninemia, BH4-Deficient, type A; PTPS deficiency;

Details

Origin ID

C535325;

UMLS CUI

C0878676;

Currated CISMeF NLP mapping
- 6 pyruvoyl tetrahydropterin synthase deficiency [Disease (Nov.)]
- 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) [SNOMED CT concept]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [ICD-11 More detail]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [ORDO Disease]
- BH4-deficient hyperphenylalaninemia A [DO Concept]
- Hyperphenylalaninemia, BH4-deficient A [NCIt concept]
- Hyperphenylalaninemia, bh4-deficient, a [OMIM Phenotype]
DO Cross reference
- BH4-deficient hyperphenylalaninemia A [DO Concept]
MeSH term(s) associated for indexing
- phenylketonurias [MeSH Descriptor]
- phosphorus-oxygen lyases [MeSH Descriptor]
ORDO relation(s)
- 6-pyruvoyl-tetrahydropterin synthase deficiency [ORDO Disease]
Record concept(s)
- 6-pyruvoyl-tetrahydropterin synthase deficiency [MeSH concept]
See also (suggested by CISMeF)
- 6-pyruvoyltetrahydropterin synthase [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 6 pyruvoyl tetrahydropterin synthase deficiency [Disease (Nov.)]
- 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) [SNOMED CT concept]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [ORDO Disease]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [ICD-11 More detail]
- BH4-deficient hyperphenylalaninemia A [DO Concept]
- Hyperphenylalaninemia, BH4-deficient A [NCIt concept]
- Hyperphenylalaninemia, bh4-deficient, a [OMIM Phenotype]
Validated automatic mappings to NTBT
- Malignant hyperphenylalaninaemia due to tetrahydrobiopterin deficiency [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients