13q12.3 microdeletion syndrome 773547003
SNOMED CT code
| SNOMED code | 773547003 |
|---|---|
| name | 13q12.3 microdeletion syndrome |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | 13q12.3 microdeletion syndrome (disorder) |
| synonyms |
|
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Chromosome pair 13 55401003 |
| Associated morphology | Partial monosomy 371169004 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Associated morphology | Partial monosomy 371169004 |
| Finding site | Long arm of chromosome 312242007 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group4 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group5 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 13q12.3 microdeletion syndrome 773547003 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 13 17760001 Deletion of part of chromosome 13 726384005 Deletion of long arm of chromosome 13 205630009 13q12.3 microdeletion syndrome 773547003 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 13q12.3 microdeletion syndrome 773547003 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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