12q14 microdeletion syndrome 719046005
SNOMED CT code
| SNOMED code | 719046005 |
|---|---|
| name | 12q14 microdeletion syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | 12q14 microdeletion syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Partial monosomy 371169004 |
| Finding site | Chromosome pair 12 17897000 |
| attributes - group3 | |
| Finding site | Bone structure 272673000 |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Dysplasia 25723000 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Long arm of chromosome 312242007 |
| Associated morphology | Partial monosomy 371169004 |
| attributes - group4 | |
| Has interpretation | Above reference range 281302008 |
| Interprets | Bone density scan 312681000 |
| attributes - group5 | |
| Interprets | Height / growth measure 271603002 |
| attributes - group6 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group7 | |
| 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 12q14 microdeletion syndrome 719046005 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 12q14 microdeletion syndrome 719046005 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 12 37535007 Deletion of part of chromosome 12 726382009 Deletion of part of long arm of chromosome 12 726383004 12q14 microdeletion syndrome 719046005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Osteopoikilosis 9147009 12q14 microdeletion syndrome 719046005 |
| 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