6-pyruvoyl-tetrahydropterin synthase deficiency

Preferred Label : 6-pyruvoyl-tetrahydropterin synthase deficiency;

ICD-11 definition : 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency, as well as of defective neurotransmission of monoamines. When left untreated, the deficiency causes neurological signs at age 4 or 5 months including psychomotor retardation, tonus disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation and difficulty swallowing.;

ICD-11 synonym : PTPS deficiency; PTPS - [6-pyruvoyl-tetrahydropterin synthase] deficiency;

Details

Origin ID

1744398760;

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 [ORDO Disease]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [MeSH Supplementary Concept]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [MeSH concept]
- BH4-deficient hyperphenylalaninemia A [DO Concept]
- Hyperphenylalaninemia, BH4-deficient A [NCIt concept]
- Hyperphenylalaninemia, bh4-deficient, a [OMIM Phenotype]
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 [MeSH concept]
- 6-pyruvoyl-tetrahydropterin synthase deficiency [MeSH Supplementary Concept]
- 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]

Keyword's position in hierarchy(ies) :

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