Xq25 microduplication syndrome 1229872004
SNOMED CT code
| SNOMED code | 1229872004 |
|---|---|
| name | Xq25 microduplication syndrome |
| status | active |
| date introduced | 2022-05-31 |
| fully specified name(s) | Xq25 microduplication syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Long arm of chromosome 312242007 |
| Associated morphology | Partial trisomy 133849008 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Sex chromosome X 72837006 |
| Associated morphology | Partial trisomy 133849008 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group4 | |
| 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 Xq25 microduplication syndrome 1229872004 SNOMED CT Concept 138875005 Clinical 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 Xq25 microduplication syndrome 1229872004 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 Xq25 microduplication syndrome 1229872004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Xq25 microduplication syndrome 1229872004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Xq25 microduplication syndrome 1229872004 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 Xq25 microduplication syndrome 1229872004 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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