16p11.2p12.2 microdeletion syndrome 719576009
SNOMED CT code
| SNOMED code | 719576009 |
|---|---|
| name | 16p11.2p12.2 microdeletion syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | 16p11.2p12.2 microdeletion syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Short arm of chromosome 278145009 |
| Associated morphology | Partial monosomy 371169004 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Chromosome pair 16 39220001 |
| Associated morphology | Partial monosomy 371169004 |
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Finding site | Face structure 89545001 |
| Occurrence | Congenital 255399007 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Disorder of head 118934005 Disorder of face 118930001 Congenital anomaly of face 398302004 Multiple malformation syndrome with facial defects as major feature 65094009 16p11.2p12.2 microdeletion syndrome 719576009 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 16p11.2p12.2 microdeletion syndrome 719576009 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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