Glucose Phosphate Isomerase Deficiency

Preferred Label : Glucose Phosphate Isomerase Deficiency;

NCIt related terms : Glucose-6-Phosphate Isomerase Deficiency;

Alternative definition : NICHD: A rare, autosomal recessive, inherited disorder caused by mutation of the GPI gene. It is characterized by chronic, non-spherocytic hemolytic anemia.;

Details

Origin ID

C131643;

UMLS CUI

C0398561;

Automatic exact mappings (from CISMeF team)
- Deficiency of glucose-6-phosphate isomerase (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Glucose phosphate isomerase deficiency [ICD-11 More detail]
- Glucose phosphate isomerase 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)
- Glucose phosphate isomerase deficiency [ICD-11 More detail]
- Glucose phosphate isomerase deficiency (disorder) [SNOMED CT concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [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
- GPI Gene [NCIt concept]
related_to_genetic_biomarker
- GPI Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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