14q11.2 microdeletion syndrome 719047001
SNOMED CT code
| SNOMED code | 719047001 |
|---|---|
| name | 14q11.2 microdeletion syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | 14q11.2 microdeletion syndrome (disorder) |
| synonyms |
|
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Chromosome pair 14 66933007 |
| Associated morphology | Partial monosomy 371169004 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Long arm of chromosome 312242007 |
| Associated morphology | Partial monosomy 371169004 |
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Chromosomal disorder 409709004 Congenital chromosomal disease 74345006 Anomaly of chromosome pair 362984008 Anomaly of chromosome pair 14 27183007 Deletion of part of chromosome 14 726385006 Partial deletion of long arm of chromosome 14 1153430004 14q11.2 microdeletion syndrome 719047001 SNOMED CT Concept 138875005 Clinical 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 14q11.2 microdeletion syndrome 719047001 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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