Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3702798018 | Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3702799014 | Tall stature, scoliosis, macrodactyly of hallux syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
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 toe (disorder) | 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 | Great toe structure (body structure) | true | Inferred relationship | Some | 2 | |
Tall stature, scoliosis, macrodactyly of great toe syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Tall stature, scoliosis, macrodactyly of great toe syndrome | Pathological process (attribute) | 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 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets