OMOP Concept 36715482
Hypotonia cystinuria syndrome
StandardConditionSNOMED721173005Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to Hypotonia cystinuria syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C564710 | Hypotonia-Cystinuria Syndrome | Non-standard |
| Nebraska Lexicon | 721173005 | Hypotonia cystinuria syndrome | Non-standard |
Synonyms
Alternative names recorded for Hypotonia cystinuria syndrome across source vocabularies.
- Hypotonia cystinuria syndrome (disorder)
- síndrome de cistinuria-hipotonía
- síndrome de cistinuria-hipotonía (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(46)Roll up to these when you need a wider cohort.
- 1Cystinuria, type 1
- 2Autosomal recessive hereditary disorder
- 2Cystinuria
- 2Disorder of skeletal muscle
- 2Hereditary disorder of musculoskeletal system
- 2Hereditary nephropathy
- 2Poor muscle tone
- 3Amino acid transport disorder
- 3Autosomal hereditary disorder
- 3Disorder of muscle
- 3Disorder of musculoskeletal system
- 3Disorder of soft tissue
- 3Finding of muscle tone
- 3General finding of soft tissue
- 3Hereditary disorder by system
- 3Hereditary disorder of the urinary system
- 3Kidney disease
- 3Metabolic renal disease
- 3Musculoskeletal finding
- 3Specific renal tubule transport defect
- 4Clinical finding
- 4Disease
- 4Disorder of amino acid and organic acid metabolism
- 4Disorder of body system
- 4Disorder of kidney and/or ureter
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