Potocki-Shaffer syndrome 702346005
SNOMED CT code
| SNOMED code | 702346005 |
|---|---|
| name | Potocki-Shaffer syndrome |
| status | active |
| date introduced | 2014-07-31 |
| fully specified name(s) | Chromosome 11p11.2 deletion syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Partial monosomy 371169004 |
| Finding site | Chromosome pair 11 16312006 |
| attributes - group3 | |
| Associated morphology | External hyperostosis 80400009 |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Bone structure 272673000 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Deletion of short arm 67285006 |
| Finding site | Chromosome pair 11 16312006 |
| Occurrence | Congenital 255399007 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Musculoskeletal finding 106028002 Mass of musculoskeletal structure 300861003 Exostosis 416189003 Congenital exostosis 268276007 Potocki-Shaffer syndrome 702346005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chromosomal disorder 409709004 Congenital chromosomal disease 74345006 Anomaly of chromosome pair 362984008 Anomaly of chromosome pair 11 60891003 Deletion of part of chromosome 11 726381002 11p partial monosomy syndrome 4135001 Potocki-Shaffer syndrome 702346005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Potocki-Shaffer syndrome 702346005 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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