14q11.2 microduplication syndrome 771341006
SNOMED CT code
| SNOMED code | 771341006 |
|---|---|
| name | 14q11.2 microduplication syndrome |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | 14q11.2 microduplication 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 | |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Chromosome pair 14 66933007 |
| Associated morphology | Partial trisomy 133849008 |
| Occurrence | Congenital 255399007 |
| 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 14 726353008 14q partial trisomy 7586009 14q11.2 microduplication syndrome 771341006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 14q11.2 microduplication syndrome 771341006 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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