OMOP Concept 4130066
Hereditary hemoglobinopathy due to globin chain mutation
StandardConditionSNOMED127038008Disorder
Maps from
1
Descendants
61
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 Hereditary hemoglobinopathy due to globin chain mutation via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 127038008 | Hereditary haemoglobinopathy due to globin chain mutation | Non-standard |
Synonyms
Alternative names recorded for Hereditary hemoglobinopathy due to globin chain mutation across source vocabularies.
- hemoglobinopatía estructural
- hemoglobinopatía hereditaria por mutaciones en las cadenas de globina
- hemoglobinopatía hereditaria por mutaciones en las cadenas de globina (trastorno)
- Hereditary haemoglobinopathy due to globin chain mutation
- Hereditary hemoglobinopathy due to globin chain mutation (disorder)
- Structural haemoglobinopathy
- Structural hemoglobinopathy
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(15)Roll up to these when you need a wider cohort.
- 1Hereditary hemoglobinopathy
- 2Congenital disease
- 2Hemoglobinopathy
- 2Hereditary red blood cell disorder
- 3Disorder of fetus and/or newborn
- 3Hereditary disorder of cellular element of blood
- 3Red blood cell disorder
- 4Disease
- 4Disorder of body system
- 4Disorder of cellular component of blood
- 4Hereditary disorder by system
- 5Clinical finding
- 5Finding of blood, lymphatics and immune system
- 5Hereditary disease
- 6Genetic disease
Narrower concepts
(61)Included automatically when you query with descendants.
- 1Congenital methemoglobinemia with abnormal methemoglobins
- 1Hemoglobin C disease
- 1Hemoglobin C trait
- 1Hemoglobin D disease
- 1Hemoglobin D trait
- 1Hemoglobin E disease
- 1Hemoglobin E trait
- 1Hemoglobin M disease
- 1Hemoglobin O-Arab trait
- 1Hereditary hemoglobin S
- 1Unstable hemoglobin disease
- 2Hemoglobin C beta thalassemia
- 2Hemoglobin C/beta thalassemia disease
- 2Hemoglobin D beta plus thalassemia
- 2Hemoglobin D/beta thalassemia disease
- 2Hemoglobin D beta zero thalassemia
- 2Hemoglobin E/beta thalassemia disease
- 2Sickle cell trait
- 2Sickling disorder due to hemoglobin S
- 2Thalassemia-hemoglobin C disease
- 3Double heterozygous sickling disorder
- 3Hemoglobin C beta plus thalassemia
- 3Hemoglobin C beta zero thalassemia
- 3Hemoglobin E beta plus thalassemia
- 3Hemoglobin E beta zero thalassemia
- 3Hemoglobin S sickling disorder with crisis
- 3Hemoglobin S sickling disorder without crisis
- 3Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome
- 3Sickle cell-hemoglobin SS disease
- 3Sickle cell-thalassemia disease
- 3Sickle cell trait in mother complicating childbirth
- 3Sickle cell trait in mother complicating pregnancy
- 3Sickle cell trait with coexistent alpha-thalassemia
- 4Hemoglobin SS disease with crisis
- 4Hemoglobin SS disease without crisis
- 4Sickle cell anemia in mother complicating childbirth
- 4Sickle cell anemia with coexistent alpha-thalassemia
- 4Sickle cell anemia with high hemoglobin F
- 4Sickle cell-beta-thalassemia
- 4Sickle cell-hemoglobin C disease
- 4Sickle cell-hemoglobin C disease with crisis
- 4Sickle cell-hemoglobin C disease without crisis
- 4Sickle cell-hemoglobin D disease
- 4Sickle cell-hemoglobin D disease with crisis
- 4Sickle cell-hemoglobin D disease without crisis
- 4Sickle cell-hemoglobin E disease
- 4Sickle cell-hemoglobin E disease with crisis
- 4Sickle cell-hemoglobin E disease without crisis
- 4Sickle cell-hemoglobin Lepore disease
- 4Sickle cell-Hemoglobin O Arab disease
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