Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3315216014 | Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3315217017 | Radioulnar synostosis with microcephaly and scoliosis syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3315218010 | Giuffre Tsukahara syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3315219019 | Tsukahara syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3315220013 | An extremely rare syndrome with characteristics of the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Associated morphology | Congenital abnormal fusion | true | Inferred relationship | Some | 2 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Finding site | Bone structure of radius and/or ulna | false | Inferred relationship | Some | 2 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Finding site | Brain structure | false | Inferred relationship | Some | 1 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Associated morphology | Congenital smallness | true | Inferred relationship | Some | 1 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Finding site | Bone structure of radius | true | Inferred relationship | Some | 2 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Associated morphology | Congenital abnormal fusion | true | Inferred relationship | Some | 3 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Finding site | Bone structure of ulna | true | Inferred relationship | Some | 3 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Is a | Genetic disease | true | Inferred relationship | Some | ||
Radioulnar synostosis with microcephaly and scoliosis syndrome | Interprets | Height / growth measure | true | Inferred relationship | Some | 5 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 6 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Interprets | Birth head circumference | true | Inferred relationship | Some | 6 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Finding site | Structure of head | true | Inferred relationship | Some | 1 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Is a | Congenital microcephaly | true | Inferred relationship | Some | ||
Radioulnar synostosis with microcephaly and scoliosis syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 5 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 7 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 7 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 8 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 8 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Is a | Microcephalus | false | Inferred relationship | Some | ||
Radioulnar synostosis with microcephaly and scoliosis syndrome | Is a | Radioulnar synostosis | true | Inferred relationship | Some | ||
Radioulnar synostosis with microcephaly and scoliosis syndrome | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Radioulnar synostosis with microcephaly and scoliosis syndrome | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
Radioulnar synostosis with microcephaly and scoliosis syndrome | Is a | Intellectual disability | false | Inferred relationship | Some | ||
Radioulnar synostosis with microcephaly and scoliosis syndrome | Is a | Short stature disorder | true | Inferred relationship | Some | ||
Radioulnar synostosis with microcephaly and scoliosis syndrome | Is a | Scoliosis deformity of spine | true | Inferred relationship | Some | ||
Radioulnar synostosis with microcephaly and scoliosis syndrome | Associated morphology | Lateral abnormal curvature | true | Inferred relationship | Some | 4 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Finding site | Musculoskeletal structure of spine | true | Inferred relationship | Some | 4 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 5 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Finding site | Bone structure of radius and/or ulna | false | Inferred relationship | Some | 5 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 6 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Finding site | Brain structure | false | Inferred relationship | Some | 6 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome | Is a | Intellectual disability | true | Inferred relationship | Some |
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