17q11 deletion syndrome 880093002
SNOMED CT code
| SNOMED code | 880093002 |
|---|---|
| name | 17q11 deletion syndrome |
| status | active |
| date introduced | 2021-01-31 |
| fully specified name(s) | 17q11 deletion syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Associated morphology | Partial monosomy 371169004 |
| Occurrence | Congenital 255399007 |
| Finding site | Chromosome pair 17 45201007 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Long arm of chromosome 312242007 |
| Associated morphology | Partial monosomy 371169004 |
| attributes - group3 | |
| Finding site | Nervous system structure 25087005 |
| Associated morphology | Neurofibromatosis 81669005 |
| Occurrence | Congenital 255399007 |
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| Finding site | Skin structure 39937001 |
| Associated morphology | Neurofibromatosis 81669005 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 17q11 deletion syndrome 880093002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 17q11 deletion syndrome 880093002 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 17 32107005 Deletion of part of chromosome 17 726389000 Deletion of part of long arm of chromosome 17 733300002 17q11 deletion syndrome 880093002 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Disorder of integument 128598002 Hereditary disorder of the integument 363185004 Neurofibromatosis type 1 92824003 17q11 deletion syndrome 880093002 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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