21q22.11q22.12 microdeletion syndrome 787171006
SNOMED CT code
SNOMED code | 787171006 |
---|---|
name | 21q22.11q22.12 microdeletion syndrome |
status | active |
date introduced | 2019-07-31 |
fully specified name(s) | 21q22.11q22.12 microdeletion syndrome (disorder) |
synonyms |
|
attributes - group2 | |
Occurrence | Congenital 255399007 |
Finding site | Chromosome pair 21 43009003 |
Pathological process | Pathological developmental process 308490002 |
Associated morphology | Deletion of long arm 64329008 |
attributes - group3 | |
Occurrence | Congenital 255399007 |
Associated morphology | Morphologically abnormal structure 49755003 |
Finding site | Face structure 89545001 |
Pathological process | Pathological developmental process 308490002 |
attributes - group1 | |
Occurrence | Congenital 255399007 |
Associated morphology | Partial monosomy 371169004 |
Finding site | Chromosome pair 21 43009003 |
Pathological process | Pathological developmental process 308490002 |
attributes - group4 | |
Interprets | Height / growth measure 271603002 |
attributes - group5 | |
Interprets | Intellectual ability 247573007 |
Has interpretation | Impaired 260379002 |
attributes - group6 | |
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 21q22.11q22.12 microdeletion syndrome 787171006 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 21 70156005 Deletion of part of chromosome 21 726398002 21q partial monosomy syndrome 15841002 21q22.11q22.12 microdeletion syndrome 787171006 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 21q22.11q22.12 microdeletion syndrome 787171006 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 21q22.11q22.12 microdeletion syndrome 787171006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 21q22.11q22.12 microdeletion syndrome 787171006 |
ancestors | sorted most to least specific
|
cpt crosswalks |
Thank you for choosing Find-A-Code, please Sign In to remove ads.