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 |
3326440010 | Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3326441014 | Radioulnar synostosis with developmental delay and hypotonia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3326442019 | Der Kaloustian McIntosh Silver syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402732011 | Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402733018 | Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalised hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears). | 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 developmental delay and hypotonia syndrome (disorder) | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Is a | Radioulnar synostosis | false | Inferred relationship | Some | ||
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 3 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Finding site | Structure of bone of forearm (body structure) | false | Inferred relationship | Some | 3 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 4 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 4 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 1 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Finding site | Structure of bone of forearm (body structure) | false | Inferred relationship | Some | 1 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Finding site | Bone structure of radius (body structure) | false | Inferred relationship | Some | 1 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Finding site | Bone structure of ulna | false | Inferred relationship | Some | 3 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Is a | Congenital radioulnar synostosis | true | Inferred relationship | Some | ||
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Finding site | Bone structure of ulna | true | Inferred relationship | Some | 1 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Associated morphology | Abnormally fused structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Finding site | Bone structure of radius (body structure) | true | Inferred relationship | Some | 3 | |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Associated morphology | Abnormally fused structure (morphologic abnormality) | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)