OMOP Concept 4024103
Triglyceride storage disease with ichthyosis
StandardConditionSNOMED19604005Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to Triglyceride storage disease with ichthyosis via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 124117 | Triglyceride Storage Disease with Ichthyosis | Non-standard |
| MeSH | C536560 | Chanarin-Dorfman Syndrome | Non-standard |
Synonyms
Alternative names recorded for Triglyceride storage disease with ichthyosis across source vocabularies.
- Chanarin-Dorfman disease
- Chanarin-Miranda syndrome
- enfermedad de Chanarin - Dorfman
- enfermedad por almacenamiento de triglicéridos con ictiosis
- enfermedad por almacenamiento de triglicéridos con ictiosis (trastorno)
- Ichthyosiform erythroderma with leucocyte vacuolation
- Ichthyosiform erythroderma with leukocyte vacuolation
- Ichthyotic neutral lipid storage disease
- Lipid storage myopathy AND congenital ichthyosis
- miopatía por almacenamiento de lípidos E ictiosis congénita
- Neutral lipid storage disease
- síndrome de Chanarin - Miranda
- Triglyceride storage disease with ichthyosis (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(24)Roll up to these when you need a wider cohort.
- 1Disorder of skeletal muscle
- 1Hereditary disorder of musculoskeletal system
- 1Lipid storage disease
- 2Disorder of lipid storage and metabolism
- 2Disorder of lysosomal enzyme
- 2Disorder of muscle
- 2Disorder of musculoskeletal system
- 2Disorder of soft tissue
- 2Hereditary disorder by system
- 2Inborn error of metabolism
- 3Congenital disease
- 3Disease
- 3Disorder of body system
- 3Disorder of lipoprotein AND/OR lipid metabolism
- 3Enzymopathy
- 3General finding of soft tissue
- 3Hereditary disease
- 3Hereditary metabolic disease
- 3Muscle finding
- 3Musculoskeletal finding
- 4Clinical finding
- 4Fetal and/or neonatal disorder
- 4Genetic disease
- 4Metabolic disease
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