OMOP Concept 619026
17q11 deletion syndrome
StandardConditionSNOMED880093002Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2021
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
1 source code normalizes to 17q11 deletion syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C563524 | NF1 Microdeletion Syndrome | Non-standard |
Synonyms
Alternative names recorded for 17q11 deletion syndrome across source vocabularies.
- 17q11 deletion syndrome (disorder)
- Chromosome 17q11.2 deletion syndrome
- monosomía 17q11
- Monosomy 17q11
- Neurofibromatosis type 1 microdeletion syndrome
- síndrome de deleción 17q11
- síndrome de deleción 17q11 (trastorno)
- síndrome de deleción del cromosoma 17q11.2
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(58)Roll up to these when you need a wider cohort.
- 1Congenital malformation
- 1Deletion of part of long arm of chromosome 17
- 1Developmental hereditary disorder
- 1Neurofibromatosis type 1
- 2Autosomal dominant hereditary disorder
- 2Congenital disease
- 2Deletion of part of chromosome 17
- 2Developmental disorder
- 2Hereditary disease
- 2Hereditary disorder of nervous system
- 2Hereditary disorder of the integument
- 2Neurofibromatosis syndrome
- 3Anomaly of chromosome pair 17
- 3Autosomal hereditary disorder
- 3Deletion of part of autosome
- 3Disease
- 3Disorder of integument
- 3Disorder of nervous system
- 3Fetal and/or neonatal disorder
- 3Genetic disease
- 3Hereditary disorder by system
- 3Neoplasm of nerve sheath origin
- 3Neoplasm of uncertain behavior of nervous system
- 3Neoplasm of uncertain behavior of skin
- 3Neurocutaneous syndrome
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