glucosephosphate dehydrogenase deficiency

Preferred Label : glucosephosphate dehydrogenase deficiency;

MeSH definition : A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia.;

MeSH synonym : deficiencies, gpd; deficiencies, glucosephosphate dehydrogenase; deficiency, gpd; gpd deficiency; gpd deficiencies; glucosephosphate dehydrogenase deficiencies; deficiency, glucosephosphate dehydrogenase; dehydrogenase deficiencies, glucosephosphate; dehydrogenase deficiency, glucosephosphate; G6PD deficiency; deficiencies, G6PD; deficiency, G6PD; G6PD deficiencies; Glucose-6-Phosphate dehydrogenase deficiency; deficiencies, Glucose-6-Phosphate dehydrogenase; deficiency, Glucose-6-Phosphate dehydrogenase; dehydrogenase deficiencies, Glucose-6-Phosphate; dehydrogenase deficiency, Glucose-6-Phosphate; Glucose-6-Phosphate dehydrogenase deficiencies; glucose 6 phosphate dehydrogenase deficiency; hemolytic anemia due to G6PD deficiency; deficiency of Glucose-6-Phosphate dehydrogenase; deficiency of glucose 6 phosphate dehydrogenase;

Wikipedia link : https://en.wikipedia.org/wiki/Glucose 6 phosphate dehydrogenase deficiency;

Details

Origin ID

D005955;

UMLS CUI

C2939465;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- 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 [NCIt concept]
- Glucose-6-Phosphate dehydrogenase [LOINC component]
- Glucose-6-phosphate dehydrogenase deficiency [PASCAL descriptor]
- Glucose-6-phosphate dehydrogenase deficiency [MedDRA Preferred Term]
- Glucose-6-phosphate dehydrogenase deficiency [ICD-11 More detail]
- Glucose-6-phosphate-dehydrogenase deficiency [ORDO Disease]
- g6pd deficiency [MedlinePlus Topic]
- glucose-6-phosphate dehydrogenase deficiency [Blood Transfusion thesaurus concept]
- glucosephosphate dehydrogenase deficiency [DO Concept]
DO Cross reference
- glucosephosphate dehydrogenase deficiency [DO Concept]
Manual NTBT mappings (CISMeF)
- Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies [ORDO Disease]
MeSH Descriptor(s) used for indexing
- glucosephosphate dehydrogenase [MeSH Descriptor]
Record concept(s)
- glucosephosphate dehydrogenase deficiency [MeSH concept]
Related MeSH Supplementary Concept(s)
- anemia, nonspherocytic hemolytic, due to G6pd deficiency [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Glucose-6-phosphate dehydrogenase [OMIM gene]
- 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 [NCIt concept]
- Glucose-6-phosphate dehydrogenase deficiency [MedDRA Preferred Term]
- g6pd deficiency [MedlinePlus Topic]
- glucosephosphate dehydrogenase deficiency [DO Concept]
Validated automatic mappings to BTNT
- 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]
- Anemia hemolytic G6PD deficiency [MedDRA LLT]
- Glucose-6-phosphate dehydrogenase deficiency anemia (disorder) [SNOMED CT concept]
- Haemolytic anaemia due to glucose-6-phosphate dehydrogenase deficiency [ICD-11 Sub-sub category]
- Hemolytic anemia G6PD deficiency [MedDRA LLT]
- glucose-6-phosphate dehydrogenase deficiency anemia, nos [SNOMED Notion]

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