9q21.13 microdeletion syndrome 1229875002
SNOMED CT code
| SNOMED code | 1229875002 |
|---|---|
| name | 9q21.13 microdeletion syndrome |
| status | active |
| date introduced | 2022-05-31 |
| fully specified name(s) | 9q21.13 microdeletion syndrome (disorder) |
| synonyms | 9q21.13 microdeletion syndrome |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Chromosome pair 9 13526007 |
| Associated morphology | Partial monosomy 371169004 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| Finding site | Chromosome pair 9 13526007 |
| Associated morphology | Deletion of long arm 64329008 |
| attributes - group2 | |
| 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 9q21.13 microdeletion syndrome 1229875002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 9q21.13 microdeletion syndrome 1229875002 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 9 5051002 Deletion of part of chromosome 9 726379004 9q partial monosomy syndrome 43420005 9q21.13 microdeletion syndrome 1229875002 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 9q21.13 microdeletion syndrome 1229875002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 9q21.13 microdeletion syndrome 1229875002 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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