Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3315217017 | Radioulnar synostosis with microcephaly and scoliosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3315218010 | Giuffre Tsukahara syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3315219019 | Tsukahara syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401982010 | Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401983017 | Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterised by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Is a | Microcephalus | false | Inferred relationship | Some | ||
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Is a | Radioulnar synostosis | false | Inferred relationship | Some | ||
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Is a | Scoliosis deformity of spine | true | Inferred relationship | Some | ||
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Associated morphology | Lateral abnormal curvature | true | Inferred relationship | Some | 4 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Finding site | Musculoskeletal structure of spine | true | Inferred relationship | Some | 4 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 5 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Finding site | Structure of bone of forearm (body structure) | false | Inferred relationship | Some | 5 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 6 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 6 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 2 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Finding site | Structure of bone of forearm (body structure) | false | Inferred relationship | Some | 2 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 1 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 1 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Finding site | Bone structure of radius (body structure) | true | Inferred relationship | Some | 2 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 3 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Finding site | Bone structure of ulna | true | Inferred relationship | Some | 3 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Is a | Genetic disease | true | Inferred relationship | Some | ||
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 5 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 6 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Interprets | Birth head circumference | true | Inferred relationship | Some | 6 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 1 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 5 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 7 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 7 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 8 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 8 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Is a | Congenital radioulnar synostosis | true | Inferred relationship | Some | ||
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Associated morphology | Abnormally fused structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Associated morphology | Abnormally fused structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)