BRESEK syndrome 717945001
SNOMED CT code
| SNOMED code | 717945001 |
|---|---|
| name | BRESEK syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group3 | |
| Interprets | Adaptation behavior 406208005 |
| 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 BRESEK syndrome 717945001 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 dominant hereditary disease 1162984000 BRESEK syndrome 717945001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 BRESEK syndrome 717945001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 BRESEK syndrome 717945001 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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