OMOP Concept 4125629
Erythrocyte enzyme deficiency
StandardConditionSNOMED234401000Disorder
Maps from
1
Descendants
30
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
1 source code normalizes to Erythrocyte enzyme deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 234401000 | Erythrocyte enzyme deficiency | Non-standard |
Synonyms
Alternative names recorded for Erythrocyte enzyme deficiency across source vocabularies.
- deficiencia enzimática del eritrocito
- deficiencia enzimática del eritrocito (trastorno)
- Erythrocyte enzyme deficiency (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(6)Roll up to these when you need a wider cohort.
Narrower concepts
(30)Included automatically when you query with descendants.
- 1Adenosine deaminase overproduction
- 1Chronic non-spherocytic hemolytic anemia
- 1Deficiency of glucose-6-phosphate dehydrogenase
- 1Deficiency of glutathione reductase (NAD(P)H)
- 1Deficiency of hexokinase
- 1Dehydrated hereditary stomatocytosis
- 1Familial pseudohyperkalemia
- 1Glucose phosphate isomerase deficiency
- 1Hereditary stomatocytosis
- 1HNSHA due to decreased adenosine deaminase activity
- 1HNSHA due to diphosphoglycerate mutase deficiency
- 1HNSHA due to gamma glutamyl cysteine synthetase deficiency
- 1HNSHA due to glutathione synthetase deficiency
- 1HNSHA due to hexokinase deficiency
- 1HNSHA due to NADH diaphorase deficiency
- 1HNSHA due to phosphofructokinase deficiency
- 1HNSHA due to phosphoglycerate kinase deficiency
- 1HNSHA due to pyrimidine-5'-nucleotidase deficiency
- 1HNSHA due to triosephosphate isomerase deficiency
- 1Overhydrated hereditary stomatocytosis
- 1Phosphoglycerokinase deficiency
- 1Southeast Asian ovalocytosis
- 1Triose phosphate isomerase deficiency
- 1Uridine monophosphate hydrolase deficiency
- 2Deficiency of glucose-6-phosphate dehydrogenase with normal enzyme activity
- 2Favism
- 2Hereditary cryohydrocytosis with normal stomatin
- 2Hereditary cryohydrocytosis with reduced stomatin
- 2Moderate deficiency of glucose-6-phosphate dehydrogenase
- 2Severe deficiency of glucose-6-phosphate dehydrogenase
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