OMOP Concept 35624651
Autosomal recessive congenital methemoglobinemia
StandardConditionSNOMED767497003Disorder
Maps from
2
Descendants
2
Valid from
31 Jul 2018
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
2 source codes normalize to Autosomal recessive congenital methemoglobinemia via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 138560 | HNSHA due to NADH-Methaemoglobin Reductase Deficiency | Non-standard |
| MeSH | C537841 | NADH cytochrome B5 reductase deficiency | Non-standard |
Synonyms
Alternative names recorded for Autosomal recessive congenital methemoglobinemia across source vocabularies.
- Autosomal recessive congenital methaemoglobinaemia
- Autosomal recessive congenital methemoglobinemia (disorder)
- Chronic familial methaemoglobin reductase deficiency
- Chronic familial methemoglobin reductase deficiency
- Congenital methaemoglobinaemia due to NADH-cytochrome b5 reductase 3 deficiency
- Congenital methemoglobinemia due to NADH-cytochrome b5 reductase 3 deficiency
- Congenital NADH-methaemoglobin reductase deficiency
- Congenital NADH-methemoglobin reductase deficiency
- Cytochrome b5 reductase deficiency
- metahemoglobinemia congénita autosómica recesiva
- metahemoglobinemia congénita autosómica recesiva (trastorno)
- NADH-methaemoglobin reductase deficiency
- NADH-methemoglobin reductase deficiency
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(18)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Congenital methemoglobinemia
- 2Autosomal hereditary disorder
- 2Congenital disease
- 2Hereditary red blood cell disorder
- 2Methemoglobinemia
- 3Fetal and/or neonatal disorder
- 3Hemoglobinopathy
- 3Hereditary disease
- 3Hereditary disorder of cellular element of blood
- 3Red blood cell disorder
- 4Disease
- 4Disorder of body system
- 4Disorder of cellular component of blood
- 4Genetic disease
- 4Hereditary disorder by system
- 5Clinical finding
- 5Finding of blood, lymphatics and immune system
Narrower concepts
(2)Included automatically when you query with descendants.
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