OMOP Concept 4100827
Cystinosis
StandardConditionSNOMED190681003Disorder
Maps from
8
Descendants
5
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
8 source codes normalize to Cystinosis via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 142985 | Cystinosis | Non-standard |
| ICD10CM | E72.04 | Cystinosis | Non-standard |
| MeSH | D003554 | Cystinosis | Non-standard |
| Nebraska Lexicon | 190681003 | Cystine storage disease | Non-standard |
| OXMIS | 2703 | CYSTINOSIS | Non-standard |
| OXMIS | 2703T | CYSTINE STORAGE DISEASE | Non-standard |
| Read | C300000 | Cystinosis | Non-standard |
| Read | C300311 | Cystine storage disease | Non-standard |
Synonyms
Alternative names recorded for Cystinosis across source vocabularies.
- cistinosis
- cistinosis (trastorno)
- Cystine diathesis
- Cystine disease
- Cystine storage disease
- Cystinosis (disorder)
- enfermedad por depósitos de cistina
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(19)Roll up to these when you need a wider cohort.
- 1Amino acid transport disorder
- 1Autosomal recessive hereditary disorder
- 1Lysosomal storage disease
- 2Autosomal hereditary disorder
- 2Disorder of amino acid and organic acid metabolism
- 2Enzymopathy
- 2Metabolic disorder of transport
- 2Storage disease
- 3Disorder of amino acid metabolism
- 3Hereditary disease
- 3Inborn error of metabolism
- 3Metabolic disease
- 4Congenital disease
- 4Disease
- 4Disorder of organic acid metabolism
- 4Genetic disease
- 4Hereditary metabolic disease
- 5Clinical finding
- 5Disorder of fetus and/or newborn
Narrower concepts
(5)Included automatically when you query with descendants.
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