Proximal 16p11.2 microdeletion syndrome 718227006
SNOMED CT code
| SNOMED code | 718227006 |
|---|---|
| name | Proximal 16p11.2 microdeletion syndrome |
| status | active |
| date introduced | 2016-07-31 |
| fully specified name(s) | Proximal 16p11.2 microdeletion syndrome (disorder) |
| synonyms | Proximal 16p11.2 microdeletion syndrome |
| attributes - group2 | |
| Associated morphology | Partial monosomy 371169004 |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Chromosome pair 16 39220001 |
| attributes - group1 | |
| Finding site | Short arm of chromosome 278145009 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Partial monosomy 371169004 |
| Occurrence | Congenital 255399007 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Proximal 16p11.2 microdeletion syndrome 718227006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Proximal 16p11.2 microdeletion syndrome 718227006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chromosomal disorder 409709004 Congenital chromosomal disease 74345006 Anomaly of chromosome pair 362984008 Anomaly of chromosome pair 16 53392002 Deletion of part of chromosome 16 726387003 Deletion of part of short arm of chromosome 16 726388008 Proximal 16p11.2 microdeletion syndrome 718227006 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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