3q27.3 microdeletion syndrome 770719004
SNOMED CT code
| SNOMED code | 770719004 |
|---|---|
| name | 3q27.3 microdeletion syndrome |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | 3q27.3 microdeletion syndrome (disorder) |
| synonyms | 3q27.3 microdeletion syndrome |
| attributes - group2 | |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Partial monosomy 371169004 |
| Finding site | Chromosome pair 3 113355002 |
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Long arm of chromosome 312242007 |
| Associated morphology | Partial monosomy 371169004 |
| Occurrence | Congenital 255399007 |
| attributes - group4 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group5 | |
| 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 3q27.3 microdeletion syndrome 770719004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 3q27.3 microdeletion syndrome 770719004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 3q27.3 microdeletion syndrome 770719004 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 3q27.3 microdeletion syndrome 770719004 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 3 13674001 Deletion of part of chromosome 3 726369001 Deletion of part of long arm of chromosome 3 726370000 3q27.3 microdeletion syndrome 770719004 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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