Glucose-6-Phosphate Dehydrogenase Deficiency

Preferred Label : Glucose-6-Phosphate Dehydrogenase Deficiency;

NCIt synonyms : G6PD Deficiency;

NCIt related terms : G-6-PD Variant Enzyme Deficiency Anemia; G6PD;

NCIt definition : An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs.;

Alternative definition : NICHD: An X-linked recessive disorder caused by mutations in the G6PD gene. It is characterized by subnormal activity of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia, usually in response to infection or exposure to food, drugs, or other substances.;

Details

Origin ID

C98933;

UMLS CUI

C2939465;

Automatic exact mappings (from CISMeF team)
- Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder) [SNOMED CT concept]
- glucose-6-phosphate dehydrogenase A- [MeSH Supplementary Concept]
- glucosephosphate dehydrogenase [MeSH Descriptor]
Currated CISMeF NLP mapping
- Anaemia due to glucose-6-phosphate dehydrogenase [G6PD] deficiency [ICD-10 Sub-category (who)]
- Anemia due to glucose-6-phosphate dehydrogenase [G6PD] deficiency [ICD-10 Sub-category]
- Deficiency of glucose-6-phosphate dehydrogenase (disorder) [SNOMED CT concept]
- G-6 PD deficiency [MedDRA LLT]
- G6PD deficiency [MedDRA LLT]
- Glucose-6-Phosphate dehydrogenase [LOINC component]
- Glucose-6-phosphate dehydrogenase [OMIM gene]
- Glucose-6-phosphate dehydrogenase deficiency [MedDRA Preferred Term]
- Glucose-6-phosphate dehydrogenase deficiency [PASCAL descriptor]
- Glucose-6-phosphate dehydrogenase deficiency [ICD-11 More detail]
- Glucose-6-phosphate dehydrogenase deficiency anemia (disorder) [SNOMED CT concept]
- Glucose-6-phosphate-dehydrogenase deficiency [ORDO Disease]
- Haemolytic anaemia due to glucose-6-phosphate dehydrogenase deficiency [ICD-11 Sub-sub category]
- g6pd deficiency [MedlinePlus Topic]
- glucose-6-phosphate dehydrogenase [ORDO Gene]
- glucose-6-phosphate dehydrogenase deficiency [Blood Transfusion thesaurus concept]
- glucose-6-phosphate dehydrogenase deficiency anemia, nos [SNOMED Notion]
- glucosephosphate dehydrogenase deficiency [MeSH concept]
- glucosephosphate dehydrogenase deficiency [MeSH Descriptor]
- glucosephosphate dehydrogenase deficiency [DO Concept]
DO Cross reference
- glucosephosphate dehydrogenase deficiency [DO Concept]
See also inter- (CISMeF)
- glycogen storage disease type 1 [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of glucose-6-phosphate dehydrogenase (disorder) [SNOMED CT concept]
- G-6 PD deficiency [MedDRA LLT]
- G6PD deficiency [MedDRA LLT]
- Glucose-6-phosphate dehydrogenase deficiency [MedDRA Preferred Term]
- g6pd deficiency [MedlinePlus Topic]
- glucosephosphate dehydrogenase deficiency [MeSH concept]
- glucosephosphate dehydrogenase deficiency [MeSH Descriptor]
- glucosephosphate dehydrogenase deficiency [DO Concept]
concept_is_in_subset
- CPTAC Codelists Terminology [NCIt concept]
- CPTAC Medical Conditions Codelist [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- G6PD Gene [NCIt concept]
related_to_genetic_biomarker
- G6PD Gene [NCIt concept]

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