5p13 microduplication syndrome 770793002
SNOMED CT code
SNOMED code | 770793002 |
---|---|
name | 5p13 microduplication syndrome |
status | active |
date introduced | 2019-01-31 |
fully specified name(s) | 5p13 microduplication syndrome (disorder) |
synonyms |
|
attributes - group2 | |
Pathological process | Pathological developmental process 308490002 |
Occurrence | Congenital 255399007 |
Associated morphology | Partial trisomy 133849008 |
Finding site | Chromosome pair 5 12399004 |
attributes - group3 | |
Pathological process | Pathological developmental process 308490002 |
Associated morphology | Morphologically abnormal structure 49755003 |
Occurrence | Congenital 255399007 |
Finding site | Face structure 89545001 |
attributes - group1 | |
Pathological process | Pathological developmental process 308490002 |
Associated morphology | Partial trisomy 133849008 |
Occurrence | Congenital 255399007 |
Finding site | Short arm of chromosome 278145009 |
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 5p13 microduplication syndrome 770793002 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 5p13 microduplication syndrome 770793002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chromosomal disorder 409709004 Congenital chromosomal disease 74345006 Trisomy and partial trisomy of autosome 270521004 Partial trisomy of chromosome 5 726343007 5p partial trisomy 74008005 5p13 microduplication syndrome 770793002 |
ancestors | sorted most to least specific
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cpt crosswalks |
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