16p13.2 microdeletion syndrome 1228890005
SNOMED CT code
| SNOMED code | 1228890005 |
|---|---|
| name | 16p13.2 microdeletion syndrome |
| status | active |
| date introduced | 2022-05-31 |
| fully specified name(s) | 16p13.2 microdeletion syndrome (disorder) |
| synonyms |
|
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Short arm of chromosome 278145009 |
| Associated morphology | Partial monosomy 371169004 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Chromosome pair 16 39220001 |
| Associated morphology | Partial monosomy 371169004 |
| attributes - group4 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group5 | |
| Interprets | Intellectual ability 247573007 |
| 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 16p13.2 microdeletion syndrome 1228890005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 16p13.2 microdeletion syndrome 1228890005 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 16p13.2 microdeletion syndrome 1228890005 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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