OMOP Concept 36674190
2p21 microdeletion syndrome without cystinuria
StandardConditionSNOMED770754006Disorder
Maps from
0
Descendants
0
Valid from
31 Jan 2019
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Synonyms
Alternative names recorded for 2p21 microdeletion syndrome without cystinuria across source vocabularies.
- 2p21 microdeletion syndrome without cystinuria (disorder)
- síndrome de microdeleción 2p21 sin cistinuria
- síndrome de microdeleción 2p21 sin cistinuria (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(66)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Deletion of part of short arm of chromosome 2
- 1Developmental hereditary disorder
- 1Disorder of skeletal muscle
- 1Genetic intellectual disability
- 1Genitourinary congenital anomalies
- 1Global developmental delay
- 1Hereditary disorder of musculoskeletal system
- 1Mild intellectual disability
- 1Multiple malformation syndrome with facial defects as major feature
- 1Neurodevelopmental delay
- 1Poor muscle tone
- 2Autosomal hereditary disorder
- 2Congenital anomaly of face
- 2Congenital anomaly of lower trunk
- 2Deletion of part of chromosome 2
- 2Developmental delay
- 2Developmental disorder
- 2Disorder of muscle
- 2Disorder of musculoskeletal system
- 2Disorder of soft tissue
- 2Disorder of the genitourinary system
- 2Finding of muscle tone
- 2General finding of soft tissue
- 2Genetic disease
Showing 25 of 66. Retrieve the full set via the API.
Get this concept via the API
Resolve 2p21 microdeletion syndrome without cystinuria - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.
curl "https://api.omophub.com/v1/concepts/36674190?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card