PMP22-RAI1 contiguous gene duplication syndrome 1172899000
SNOMED CT code
| SNOMED code | 1172899000 |
|---|---|
| name | PMP22-RAI1 contiguous gene duplication syndrome |
| status | active |
| date introduced | 2021-09-30 |
| fully specified name(s) | Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Long arm of chromosome 312242007 |
| Associated morphology | Partial trisomy 133849008 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Chromosome pair 17 45201007 |
| Associated morphology | Partial trisomy 133849008 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group3 | |
| Occurrence | Childhood 255398004 |
| Finding site | Peripheral nervous system structure 3058005 |
| attributes - group4 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group5 | |
| 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 PMP22-RAI1 contiguous gene duplication syndrome 1172899000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 PMP22-RAI1 contiguous gene duplication syndrome 1172899000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 PMP22-RAI1 contiguous gene duplication syndrome 1172899000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 PMP22-RAI1 contiguous gene duplication syndrome 1172899000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 PMP22-RAI1 contiguous gene duplication syndrome 1172899000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Hereditary disorder of nervous system 363235000 Hereditary peripheral neuropathy 65017003 Hereditary motor and sensory neuropathy 398100001 PMP22-RAI1 contiguous gene duplication syndrome 1172899000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chromosomal disorder 409709004 Congenital chromosomal disease 74345006 Trisomy and partial trisomy of autosome 270521004 Partial trisomy of chromosome 17 726356000 17q partial trisomy syndrome 48812004 PMP22-RAI1 contiguous gene duplication syndrome 1172899000 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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