OMOP Concept 45765414
Potocki-Shaffer syndrome
StandardConditionSNOMED702346005Disorder
Maps from
2
Descendants
0
Valid from
31 Jul 2014
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to Potocki-Shaffer syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C538356 | Potocki-Shaffer syndrome | Non-standard |
| Nebraska Lexicon | 702346005 | Chromosome 11p11.2 deletion syndrome | Non-standard |
Synonyms
Alternative names recorded for Potocki-Shaffer syndrome across source vocabularies.
- Chromosome 11p11.2 deletion syndrome
- Chromosome 11p11.2 deletion syndrome (disorder)
- P11pDS - proximal 11p deletion syndrome
- Proximal 11p deletion syndrome
- síndrome de deleción cromosómica 11p.11.2
- síndrome de deleción cromosómica 11p.11.2 (trastorno)
- síndrome de deleción proximal de 11p
- síndrome de Potocki-Shaffer
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(29)Roll up to these when you need a wider cohort.
- 111p partial monosomy syndrome
- 1Congenital exostosis
- 1Multiple system malformation syndrome
- 2Congenital anomaly of skeletal bone
- 2Congenital malformation syndrome
- 2Deletion of part of chromosome 11
- 2Exostosis
- 3Anomaly of chromosome pair 11
- 3Congenital anomaly of musculoskeletal system
- 3Congenital malformation
- 3Deletion of part of autosome
- 3Disorder of bone
- 3Disorder of bone development
- 3Mass of musculoskeletal structure
- 4Anomaly of chromosome pair
- 4Bone finding
- 4Congenital disease
- 4Developmental disorder
- 4Disorder of musculoskeletal system
- 4Disorder of skeletal system
- 4Mass of body structure
- 4Monosomy and deletion from autosome
- 4Musculoskeletal finding
- 5Clinical finding
- 5Congenital chromosomal disease
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