OMOP Concept 4254266
Anomaly of chromosome pair 1
StandardConditionSNOMED74769007Disorder
Maps from
1
Descendants
33
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Anomaly of chromosome pair 1 via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 148682 | Anomaly of chromosome pair 1 | Non-standard |
Synonyms
Alternative names recorded for Anomaly of chromosome pair 1 across source vocabularies.
- anomalía del par de cromosomas 1
- anomalía del par de cromosomas 1 (trastorno)
- Anomaly of chromosome pair 1 (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(7)Roll up to these when you need a wider cohort.
Narrower concepts
(33)Included automatically when you query with descendants.
- 1Deletion of part of chromosome 1
- 1Maternal uniparental disomy of chromosome 1
- 1Mosaic trisomy 1 syndrome
- 1Partial trisomy of chromosome 1
- 1Paternal uniparental disomy of chromosome 1
- 1Ring chromosome 1 syndrome
- 21p partial monosomy
- 21q partial monosomy
- 2Partial trisomy of long arm of chromosome 1
- 2Partial trisomy of short arm of chromosome 1
- 31p21.3 microdeletion syndrome
- 31p31p32 microdeletion syndrome
- 31p35.2 microdeletion syndrome
- 31p36 deletion syndrome
- 31q21.1 microdeletion
- 31q21.1 microduplication syndrome
- 31q41q42 microdeletion syndrome
- 31q44 microdeletion syndrome
- 3Distal deletion of short arm of chromosome 1
- 3Distal monosomy 1q syndrome
- 3Distal trisomy 1p
- 3Distal trisomy 1p36
- 3Distal trisomy 1q
- 3Medial deletion of long arm of chromosome 1
- 3Medial deletion of short arm of chromosome 1
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