OMOP Concept 36714431
2p21 microdeletion syndrome
StandardConditionSNOMED719652007Disorder
Maps from
0
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for 2p21 microdeletion syndrome across source vocabularies.
- 2p21 microdeletion syndrome (disorder)
- monosomía 2p21
- Monosomy 2p21
- síndrome de microdeleción 2p21
- síndrome de microdeleción 2p21 (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(74)Roll up to these when you need a wider cohort.
- 1Cystinuria, type 1
- 1Deletion of part of short arm of chromosome 2
- 1Developmental delay
- 1Developmental hereditary disorder
- 1Kidney stone
- 1Multiple malformation syndrome with facial defects as major feature
- 2Autosomal recessive hereditary disorder
- 2Congenital anomaly of face
- 2Cystinuria
- 2Deletion of part of chromosome 2
- 2Developmental disorder
- 2Disorder of skeletal muscle
- 2Hereditary disease
- 2Hereditary disorder of musculoskeletal system
- 2Hereditary nephropathy
- 2Kidney lesion
- 2Multiple system malformation syndrome
- 2Poor muscle tone
- 2Urolithiasis
- 3Amino acid transport disorder
- 3Anomaly of chromosome pair 2
- 3Autosomal hereditary disorder
- 3Calculus finding
- 3Congenital anomaly of head
- 3Congenital malformation syndrome
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