hyperphenylalaninemia with primapterinuria

Preferred Label : hyperphenylalaninemia with primapterinuria;

MeSH synonym : hyperphenylalaninemia, BH4-Deficient, D; HPABH4D; CADH deficiency; hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, due to Pterin-4-Alpha-Carbinolamine dehydratase deficiency; PCBD deficiency;

Details

Origin ID

C538382;

UMLS CUI

C1849700;

Automatic exact mappings (from CISMeF team)
- Hyperphenylalaninemia, bh4-deficient, D [OMIM Phenotype]
- Pterin-4 alpha-carbinolamine dehydratase deficiency [ORDO Disease]
MeSH term(s) associated for indexing
- phenylketonurias [MeSH Descriptor]
Record concept(s)
- Hyperphenylalaninemia with primapterinuria [MeSH concept]
See also (suggested by CISMeF)
- phenylalanine [MeSH Descriptor]
- primapterin [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperphenylalaninemia, bh4-deficient, D [OMIM Phenotype]
- Pterin-4 alpha-carbinolamine dehydratase deficiency [ORDO Disease]

Keyword's position in hierarchy(ies) :

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