hyperphenylalaninemia, BH4-Deficient, B

Preferred Label : hyperphenylalaninemia, BH4-Deficient, B;

MeSH note : mutation in GCH1;

MeSH synonym : hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, due to GTP cyclohydrolase I deficiency; GTP cyclohydrolase I deficiency; HPABH4B; GTPCH deficiency;

Details

Origin ID

C562656;

UMLS CUI

C0268467;

Currated CISMeF NLP mapping
- GTP Cyclohydrolase I Deficiency [NCIt 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]
MeSH term(s) associated for indexing
- phenylketonurias [MeSH Descriptor]
Record concept(s)
- 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 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]

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