22q11.2 duplication syndrome 699311001
SNOMED CT code
| SNOMED code | 699311001 |
|---|---|
| name | 22q11.2 duplication syndrome |
| status | active |
| date introduced | 2014-01-31 |
| fully specified name(s) | 22q11.2 duplication syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Long arm of chromosome 312242007 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Partial trisomy 133849008 |
| attributes - group2 | |
| Finding site | Chromosome pair 22 79229009 |
| Associated morphology | Partial trisomy 133849008 |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Chromosomal disorder 409709004 Congenital chromosomal disease 74345006 Trisomy and partial trisomy of autosome 270521004 Trisomy 22 205655003 Partial trisomy of chromosome 22 726362005 22q partial trisomy 50992006 22q11.2 duplication syndrome 699311001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 22q11.2 duplication syndrome 699311001 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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