Xq12-q13.3 duplication syndrome 764711007
SNOMED CT code
| SNOMED code | 764711007 |
|---|---|
| name | Xq12-q13.3 duplication syndrome |
| status | active |
| date introduced | 2018-07-31 |
| fully specified name(s) | Xq12-q13.3 duplication syndrome (disorder) |
| synonyms | Xq12-q13.3 duplication syndrome |
| attributes - group1 | |
| Finding site | Long arm of chromosome 312242007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Partial trisomy 133849008 |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Associated morphology | Partial trisomy 133849008 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Sex chromosome X 72837006 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Chromosomal disorder 409709004 Congenital chromosomal disease 74345006 Anomaly of chromosome pair 362984008 Anomaly of sex chromosome 95462004 Anomaly of chromosome X 111312006 Xq12-q13.3 duplication syndrome 764711007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Sex-linked hereditary disorder 82852009 X-linked hereditary disease 128430005 X-linked recessive hereditary disease 1162976004 Xq12-q13.3 duplication syndrome 764711007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Xq12-q13.3 duplication syndrome 764711007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Xq12-q13.3 duplication syndrome 764711007 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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