GTP Cyclohydrolase I Deficiency

Preferred Label : GTP Cyclohydrolase I Deficiency;

NCIt synonyms : GTPCH Deficiency;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the GCH1 gene, encoding GTP cyclohydrolase 1. It is characterized by hyperphenylalaninemia and GTP cyclohydrolase 1-deficient dopa-responsive dystonia.;

Details

Origin ID

C141442;

UMLS CUI

C0268467;

Currated CISMeF NLP mapping
- GTP cyclohydrolase 1 deficiency [ICD-11 More detail]
- 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 1 deficiency [ICD-11 More detail]
- 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]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GCH1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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