12p12.1 microdeletion syndrome 778007004
SNOMED CT code
| SNOMED code | 778007004 |
|---|---|
| name | 12p12.1 microdeletion syndrome |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | 12p12.1 microdeletion syndrome (disorder) |
| synonyms |
|
| attributes - group2 | |
| Associated morphology | Partial monosomy 371169004 |
| Occurrence | Congenital 255399007 |
| Finding site | Chromosome pair 12 17897000 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Short arm of chromosome 278145009 |
| Associated morphology | Partial monosomy 371169004 |
| attributes - group4 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group5 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| 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 chromosome pair 12 37535007 Deletion of part of chromosome 12 726382009 Deletion of part of short arm of chromosome 12 1162440009 12p12.1 microdeletion syndrome 778007004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Lamb Shaffer syndrome 1251453008 12p12.1 microdeletion syndrome 778007004 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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