OMOP Concept 4053270
Disorder of lysosomal enzyme
StandardConditionSNOMED23585005Disorder
Maps from
2
Descendants
128
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 Disorder of lysosomal enzyme via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CDISC | C61250 | PHOSPHOLIPIDOSIS | Non-standard |
| CIEL | 142049 | Disorder of Lysosomal Enzyme | Non-standard |
Synonyms
Alternative names recorded for Disorder of lysosomal enzyme across source vocabularies.
- Disorder of lysosomal enzyme (disorder)
- Lysosomal enzyme defect
- Lysosomal enzyme disorder
- trastorno de enzimas lisosómicas
- trastorno de enzimas lisosómicas (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(6)Roll up to these when you need a wider cohort.
Narrower concepts
(128)Included automatically when you query with descendants.
- 1Acid phosphatase deficiency
- 1Arylsulfatase deficiency without MLD (metachromatic leukodystrophy)
- 1Deficiency of cerebroside-sulfatase
- 1Dysostosis multiplex group
- 1Farber's lipogranulomatosis
- 1Gangliosidosis
- 1Glycoprotein storage disorder
- 1Lipid storage disease
- 1Lipofuscinosis
- 1Mucolipidosis
- 1Mucopolysaccharidosis
- 1Multiple sulfatase deficiency
- 1Oligosaccharidosis
- 1Pancreatic triacylglycerol lipase deficiency
- 2Alpha-N-acetylgalactosaminidase deficiency
- 2Aspartylglucosaminuria
- 2Beta-D-mannosidosis
- 2Cerebral lipidosis
- 2Chemically-induced lipidosis
- 2Combined deficiency of sialidase AND beta galactosidase
- 2Deficiency of N-acetylgalactosamine-4-sulfatase
- 2Dysostosis multiplex
- 2Fabry's disease
- 2Fucosidosis
- 2GM1 gangliosidosis
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