OMOP Concept 441268
Disorder of peroxisomal function
StandardConditionSNOMED238059005Disorder
Maps from
9
Descendants
43
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
9 source codes normalize to Disorder of peroxisomal function via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 142019 | Disorder of Peroxisomal Function | Non-standard |
| ICD10CM | E71.5 | Peroxisomal disorders | Non-standard |
| ICD10CM | E71.50 | Peroxisomal disorder, unspecified | Non-standard |
| ICD10CM | E71.53 | Other group 2 peroxisomal disorders | Non-standard |
| ICD10CM | E71.54 | Other peroxisomal disorders | Non-standard |
| ICD10CM | E71.542 | Other group 3 peroxisomal disorders | Non-standard |
| ICD10CM | E71.548 | Other peroxisomal disorders | Non-standard |
| ICD9CM | 277.86 | Peroxisomal disorders | Non-standard |
| MeSH | D018901 | Peroxisomal Disorders | Non-standard |
Synonyms
Alternative names recorded for Disorder of peroxisomal function across source vocabularies.
- Disorder of peroxisomal function (disorder)
- trastorno de la función de los peroxisomas
- trastorno de la función de los peroxisomas (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(9)Roll up to these when you need a wider cohort.
Narrower concepts
(43)Included automatically when you query with descendants.
- 1General loss of peroxisomal function
- 1Loss of multiple peroxisomal functions
- 1Loss of single peroxisomal function
- 1Peroxisome biogenesis disorder
- 2Acatalasemia
- 2Acyl-CoA oxidase deficiency
- 2Adrenoleukodystrophy
- 2Alpha-methylacyl-CoA racemase deficiency disorder
- 2Bifunctional peroxisomal enzyme deficiency
- 2Contiguous ABCD1 DXS1357E deletion syndrome
- 2Deafness, enamel hypoplasia, nail defect syndrome
- 2Dihydroxycholestanoic acidemia and trihydroxycholestanoic acidemia
- 2Fatty acyl-CoA reductase 1 deficiency
- 2Glutaryl-CoA oxidase deficiency
- 2Infantile Refsum's disease
- 2Isolated alkyldihydroxyacetone phosphate synthase deficiency
- 2Isolated dihydroxyacetone phosphate acyltransferase deficiency
- 2Leukoencephalopathy, dystonia, motor neuropathy syndrome
- 2Neonatal adrenoleukodystrophy
- 2Peroxisomal thiolase deficiency
- 2PEX10 deficiency
- 2PEX12 deficiency
- 2PEX13 deficiency
- 2PEX14 deficiency
- 2PEX16 deficiency
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