OMOP Concept 4130682
Familial erythrocytosis due to diphosphoglycerate mutase deficiency
StandardConditionSNOMED127065001Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Familial erythrocytosis due to diphosphoglycerate mutase deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 127065001 | Familial erythrocytosis due to diphosphoglycerate mutase deficiency | Non-standard |
Synonyms
Alternative names recorded for Familial erythrocytosis due to diphosphoglycerate mutase deficiency across source vocabularies.
- eritrocitosis familiar por deficiencia de difosfoglicerato mutasa
- eritrocitosis familiar por deficiencia de difosfoglicerato mutasa (trastorno)
- Familial erythrocytosis due to diphosphoglycerate mutase deficiency (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(27)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Familial erythrocytosis
- 2Autosomal hereditary disorder
- 2Erythrocytosis
- 2Hereditary red blood cell disorder
- 3Hereditary disease
- 3Hereditary disorder of cellular element of blood
- 3Red blood cell count above reference range
- 3Red blood cell disorder
- 3Red blood cell finding
- 4Disorder of body system
- 4Disorder of cellular component of blood
- 4Finding of cellular component of blood
- 4Genetic disease
- 4Hematopoietic system finding
- 4Hereditary disorder by system
- 4Measurement finding above reference range
- 4Red blood cell count outside reference range
- 5Blood cell count outside reference range
- 5Disease
- 5Evaluation finding
- 5Finding of blood, lymphatics and immune system
- 5Measurement finding outside reference range
- 5Red blood cell count - finding
- 6Clinical finding
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