17q11.2 microduplication syndrome 719583002
SNOMED CT code
| SNOMED code | 719583002 |
|---|---|
| name | 17q11.2 microduplication syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | 17q11.2 microduplication syndrome (disorder) |
| synonyms |
|
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group3 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group4 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group1 | |
| Associated morphology | Partial trisomy 133849008 |
| Occurrence | Congenital 255399007 |
| Finding site | Chromosome pair 17 45201007 |
| 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 17q11.2 microduplication syndrome 719583002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 17q11.2 microduplication syndrome 719583002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 17q11.2 microduplication syndrome 719583002 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 17 726356000 17q partial trisomy syndrome 48812004 17q11.2 microduplication syndrome 719583002 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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