16p11.2p12.2 microduplication syndrome 733518000
SNOMED CT code
| SNOMED code | 733518000 |
|---|---|
| name | 16p11.2p12.2 microduplication syndrome |
| status | active |
| date introduced | 2017-07-31 |
| fully specified name(s) | 16p11.2p12.2 microduplication syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Finding site | Short arm of chromosome 278145009 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Partial trisomy 133849008 |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Chromosome pair 16 39220001 |
| Associated morphology | Partial trisomy 133849008 |
| 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 Partial trisomy of chromosome 16 726355001 Duplication of part of short arm of chromosome 16 1162487002 16p11.2p12.2 microduplication syndrome 733518000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 16p11.2p12.2 microduplication syndrome 733518000 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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