OMOP Concept 195223
Renal carnitine transport defect
StandardConditionSNOMED21764004Disorder
Maps from
6
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
6 source codes normalize to Renal carnitine transport defect via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 113344 | Primary carnitine deficiency | Non-standard |
| CIEL | 113345 | Renal Carnitine Transport Defect | Non-standard |
| ICD10CM | E71.41 | Primary carnitine deficiency | Non-standard |
| ICD9CM | 277.81 | Primary carnitine deficiency | Non-standard |
| MeSH | C536778 | Systemic carnitine deficiency | Non-standard |
| Nebraska Lexicon | 21764004 | Carnitine transporter deficiency | Non-standard |
Synonyms
Alternative names recorded for Renal carnitine transport defect across source vocabularies.
- Carnitine transporter deficiency
- Carnitine uptake defect
- defecto del transporte renal de carnitina
- defecto del transporte renal de carnitina (trastorno)
- deficiencia sistémica de carnitina
- Primary carnitine deficiency
- Renal carnitine transport defect (disorder)
- Systemic carnitine deficiency
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(36)Roll up to these when you need a wider cohort.
- 1Fatty acid oxidation defect
- 1Hereditary nephropathy
- 1Metabolic renal disease
- 2Autosomal recessive hereditary disorder
- 2Disorder of fatty acid metabolism
- 2Hereditary disorder of the urinary system
- 2Kidney disease
- 2Metabolic disease
- 3Autosomal hereditary disorder
- 3Disease
- 3Disorder of kidney and/or ureter
- 3Disorder of lipoprotein AND/OR lipid metabolism
- 3Disorder of organic acid metabolism
- 3Disorder of retroperitoneum
- 3Disorder of urinary system
- 3Hereditary disorder by system
- 3Inborn error of metabolism
- 3Kidney finding
- 4Abdominal organ finding
- 4Clinical finding
- 4Congenital disease
- 4Disorder of abdomen
- 4Disorder of body system
- 4Disorder of the genitourinary system
- 4Hereditary disease
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