Pyrimidine-5'-Nucleotidase Deficiency

Preferred Label : Pyrimidine-5'-Nucleotidase Deficiency;

Alternative definition : NICHD: An autosomal recessive disorder caused by mutation of the NT5C3A gene. It is the most frequent abnormality of red cell nucleotide metabolism, causing chronic, non-spherocytic hemolytic anemia. Most affected individuals have Mediterranean, Jewish, or African ancestry. Basophilic stippling and accumulation of pyrimidines within erythrocytes are hallmarks of this disorder.;

Details

Origin ID

C131649;

UMLS CUI

C0340969;

Currated CISMeF NLP mapping
- Haemolytic anaemia due to pyrimidine 5' nucleotidase deficiency [ICD-11 More detail]
- Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [ORDO Disease]
- Uridine monophosphate hydrolase deficiency (disorder) [SNOMED CT concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Uridine monophosphate hydrolase deficiency (disorder) [SNOMED CT concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- NT5C3A Gene [NCIt concept]

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