Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3702797011 | Tall stature, scoliosis, macrodactyly of great toe syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3702798018 | Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3702799014 | Tall stature, scoliosis, macrodactyly of hallux syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3702800013 | A rare genetic overgrowth or tall stature syndrome with skeletal involvement and characteristics of early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis. There is evidence the disease is caused by heterozygous mutation in the NPR2 gene on chromosome 9p13. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Tall stature, scoliosis, macrodactyly of great toe syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Tall stature, scoliosis, macrodactyly of great toe syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Tall stature, scoliosis, macrodactyly of great toe syndrome | Associated morphology | Hypertrophy | true | Inferred relationship | Some | 2 | |
Tall stature, scoliosis, macrodactyly of great toe syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Tall stature, scoliosis, macrodactyly of great toe syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Tall stature, scoliosis, macrodactyly of great toe syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Tall stature, scoliosis, macrodactyly of great toe syndrome | Is a | Perodactylia of great toe | true | Inferred relationship | Some | ||
Tall stature, scoliosis, macrodactyly of great toe syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Tall stature, scoliosis, macrodactyly of great toe syndrome | Is a | Dysostosis | true | Inferred relationship | Some | ||
Tall stature, scoliosis, macrodactyly of great toe syndrome | Is a | Macrodactyly of toes | true | Inferred relationship | Some | ||
Tall stature, scoliosis, macrodactyly of great toe syndrome | Is a | Multiple malformation syndrome with early overgrowth | true | Inferred relationship | Some | ||
Tall stature, scoliosis, macrodactyly of great toe syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Tall stature, scoliosis, macrodactyly of great toe syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Tall stature, scoliosis, macrodactyly of great toe syndrome | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
Tall stature, scoliosis, macrodactyly of great toe syndrome | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
Tall stature, scoliosis, macrodactyly of great toe syndrome | Finding site | Hallux structure | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set