uridine 5-Prime monophosphate hydrolase deficiency, hemolytic anemia due to

Preferred Label : uridine 5-Prime monophosphate hydrolase deficiency, hemolytic anemia due to;

MeSH note : mutation in UMPH1;

MeSH synonym : UMPH1 deficiency; hemolytic anemia due to UMPH1 deficiency; pyrimidine 5-Prime nucleotidase deficiency, hemolytic anemia due to; hemolytic anemia due to uridine 5-Prime monophosphate hydrolase deficiency; hemolytic anemia due to P5N deficiency;

Details

Origin ID

C564859;

UMLS CUI

C1849507;

Automatic exact mappings (from CISMeF team)
- Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [ORDO Disease]
CISMeF manual mappings
- Anemia, congenital, nonspherocytic hemolytic, 8 [OMIM Phenotype]
MeSH term(s) associated for indexing
- 5'-Nucleotidase [MeSH Descriptor]
- anemia, hemolytic, congenital [MeSH Descriptor]
Record concept(s)
- uridine 5-Prime monophosphate hydrolase deficiency, hemolytic anemia due to [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anemia, congenital, nonspherocytic hemolytic, 8 [OMIM Phenotype]
- Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [ORDO Disease]

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