OMOP Concept 4101917
HNSHA due to gamma glutamyl cysteine synthetase deficiency
StandardConditionSNOMED25251008Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
2 source codes normalize to HNSHA due to gamma glutamyl cysteine synthetase deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 138567 | HNSHA due to Gamma Glutamyl Cysteine Synthetase Deficiency | Non-standard |
| Nebraska Lexicon | 25251008 | Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency | Non-standard |
Synonyms
Alternative names recorded for HNSHA due to gamma glutamyl cysteine synthetase deficiency across source vocabularies.
- anemia hemolítica no esferocítica hereditaria por deficiencia de gamma glutamil cisteína sintetasa
- anemia hemolítica no esferocítica hereditaria por deficiencia de gamma glutamil cisteína sintetasa (trastorno)
- Hereditary nonspherocytic haemolytic anaemia due to gamma glutamyl cysteine synthetase deficiency
- Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to gamma glutamyl cysteine synthetase deficiency
- Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency
- Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
- Hereditary nonspherocytic hemolytic anemia (HNSHA) due to gamma glutamyl cysteine synthetase deficiency
- HNSHA por deficiencia de gamma glutamil cisteína sintetasa
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(40)Roll up to these when you need a wider cohort.
- 1Anemia due to enzyme deficiency
- 1Erythrocyte enzyme deficiency
- 1Hereditary nonspherocytic hemolytic anemia
- 2Anemia due to enzymopathy
- 2Hemolytic anemia
- 2Hereditary hemolytic anemia
- 2Red blood cell disorder
- 3Anemia
- 3Anemia due to metabolic disorder
- 3Disorder of body system
- 3Disorder of cellular component of blood
- 3Hemoglobin below reference range
- 3Hemolytic disorder
- 3Hereditary red blood cell disorder
- 3Red blood cell count below reference range
- 4Cytopenia
- 4Disease
- 4Finding of blood, lymphatics and immune system
- 4Hemoglobin level outside reference range
- 4Hemolysis
- 4Hereditary disorder of cellular element of blood
- 4Measurement finding below reference range
- 4Red blood cell count outside reference range
- 5Blood cell count outside reference range
- 5Clinical finding
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