2p15p16.1 microdeletion syndrome 719651000
SNOMED CT code
| SNOMED code | 719651000 |
|---|---|
| name | 2p15p16.1 microdeletion syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | 2p15p16.1 microdeletion syndrome (disorder) |
| synonyms |
|
| attributes - group2 | |
| Finding site | Short arm of chromosome 278145009 |
| Associated morphology | Partial monosomy 371169004 |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| attributes - group3 | |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Chromosome pair 2 113354003 |
| Associated morphology | Partial monosomy 371169004 |
| Pathological process | Pathological developmental process 308490002 |
| 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 2p15p16.1 microdeletion syndrome 719651000 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 2 32299009 Deletion of part of chromosome 2 726366008 Deletion of part of short arm of chromosome 2 726368009 2p15p16.1 microdeletion syndrome 719651000 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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