GTP cyclohydrolase 1 deficiency

Preferred Label : GTP cyclohydrolase 1 deficiency;

ICD-11 definition : GTP-cyclohydrolase I deficiency is anautosomal recessive inborn error of metabolism that causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency, together with defective neurotransmission of monoamines. The principal manifestations include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing.;

ICD-11 synonym : Hyperphenylalaninaemia with neopterin deficiency; Guanosine-5-triphosphatase cyclohydrolase deficiency; GTPCH deficiency; Hyperphenylalaninaemia due to GTP cyclohydrolase deficiency;

Details

Origin ID

987168605;

UMLS CUI

C0268467;

Currated CISMeF NLP mapping
- GTP Cyclohydrolase I Deficiency [NCIt concept]
- GTP cyclohydrolase I deficiency [ORDO Disease]
- Guanosine triphosphate cyclohydrolase I deficiency (disorder) [SNOMED CT concept]
- Hyperphenylalaninemia, bh4-deficient, b [OMIM Phenotype]
- gtp cyclohydrolase i deficiency [SNOMED Notion]
- hyperphenylalaninemia, BH4-Deficient, B [MeSH Supplementary Concept]
- hyperphenylalaninemia, BH4-Deficient, B [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GTP Cyclohydrolase I Deficiency [NCIt concept]
- GTP cyclohydrolase I deficiency [ORDO Disease]
- Guanosine triphosphate cyclohydrolase I deficiency (disorder) [SNOMED CT concept]
- Hyperphenylalaninemia, bh4-deficient, b [OMIM Phenotype]
- gtp cyclohydrolase i deficiency [SNOMED Notion]
- hyperphenylalaninemia, BH4-Deficient, B [MeSH concept]
- hyperphenylalaninemia, BH4-Deficient, B [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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