20q11.2 microdeletion syndrome 1229891004
SNOMED CT code
| SNOMED code | 1229891004 |
|---|---|
| name | 20q11.2 microdeletion syndrome |
| status | active |
| date introduced | 2022-05-31 |
| fully specified name(s) | 20q11.2 microdeletion syndrome (disorder) |
| synonyms | 20q11.2 microdeletion syndrome |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Chromosome pair 20 25610001 |
| Associated morphology | Partial monosomy 371169004 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Long arm of chromosome 312242007 |
| Associated morphology | Partial monosomy 371169004 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Limb structure 66019005 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group5 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| 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 20q11.2 microdeletion syndrome 1229891004 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Congenital anomaly of limb 60475009 Multiple malformation syndrome with facial-limb defects as major feature 23359005 20q11.2 microdeletion syndrome 1229891004 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 20 9839007 Deletion of part of chromosome 20 726395004 Deletion of part of long arm of chromosome 20 726396003 20q11.2 microdeletion syndrome 1229891004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 20q11.2 microdeletion syndrome 1229891004 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
Thank you for choosing Find-A-Code, please Sign In to remove ads.
Quick, Current, Complete - www.findacode.com