OMOP Concept 4147911
Megaloblastic anemia due to inborn errors of metabolism
StandardConditionSNOMED34925000Disorder
Maps from
1
Descendants
8
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 Megaloblastic anemia due to inborn errors of metabolism via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 134436 | Megaloblastic Anemia due to Inborn Errors of Metabolism | Non-standard |
Synonyms
Alternative names recorded for Megaloblastic anemia due to inborn errors of metabolism across source vocabularies.
- anemia megaloblástica por errores congénitos del metabolismo
- anemia megaloblástica por errores congénitos del metabolismo (trastorno)
- anemia perniciosa congénita
- Congenital pernicious anaemia
- Congenital pernicious anemia
- Megaloblastic anaemia due to inborn errors of metabolism
- Megaloblastic anemia due to inborn errors of metabolism (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(28)Roll up to these when you need a wider cohort.
- 1Congenital anemia
- 1Megaloblastic anemia
- 2Anemia
- 2Anemia related to disturbed DNA synthesis
- 2Congenital disease
- 2Hemoglobin below reference range
- 2Macrocytic anemia
- 2Red blood cell count below reference range
- 3Cytopenia
- 3Disorder of cellular component of blood
- 3Fetal and/or neonatal disorder
- 3Hemoglobin level outside reference range
- 3Measurement finding below reference range
- 3Red blood cell count outside reference range
- 4Blood cell count outside reference range
- 4Disease
- 4Finding of blood, lymphatics and immune system
- 4Hematology test outside reference range
- 4Hemoglobin finding
- 4Measurement finding outside reference range
- 4Red blood cell count - finding
- 5Clinical finding
- 5Hematopoietic system finding
- 5Measurement finding
- 5Protein level - finding
Showing 25 of 28. Retrieve the full set via the API.
Narrower concepts
(8)Included automatically when you query with descendants.
- 1Congenital megaloblastic anemia due to transcobalamin II deficiency
- 1Familial megaloblastic anemia
- 1Juvenile type megaloblastic anemia
- 1Megaloblastic anemia due to congenital deficiency of intrinsic factor
- 1Megaloblastic anemia due to error of cobalamin metabolism
- 1Megaloblastic anemia due to error of folate metabolism
- 1Thiamine-responsive megaloblastic anemia
- 2Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
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