Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3425260014 | Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3425261013 | Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5403130015 | A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403131016 | A rare neurologic disease characterised by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Is a | Dandy-Walker syndrome | true | Inferred relationship | Some | ||
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Is a | Distal spinal muscular atrophy | true | Inferred relationship | Some | ||
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Is a | Congenital anterior polar cataract | true | Inferred relationship | Some | ||
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Associated morphology | Aplasia | false | Inferred relationship | Some | 6 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Finding site | Cerebellar vermis structure | false | Inferred relationship | Some | 6 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 5 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Finding site | Cerebellar vermis structure | false | Inferred relationship | Some | 5 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Finding site | Lateral aperture of fourth ventricle | false | Inferred relationship | Some | 5 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Finding site | Foramen of Magendie | false | Inferred relationship | Some | 5 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Associated morphology | Congenital cataract | false | Inferred relationship | Some | 7 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Finding site | Structure of anterior pole of lens | false | Inferred relationship | Some | 7 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Associated morphology | Congenital dilatation | false | Inferred relationship | Some | 9 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Finding site | Brain cerebrospinal fluid pathway | false | Inferred relationship | Some | 9 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Associated morphology | Congenital cavitation | false | Inferred relationship | Some | 8 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Finding site | Infratentorial brain structure (body structure) | false | Inferred relationship | Some | 8 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Associated morphology | Congenital cavitation | false | Inferred relationship | Some | 5 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Finding site | Infratentorial brain structure (body structure) | false | Inferred relationship | Some | 5 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Finding site | Structure of anterior pole of lens | true | Inferred relationship | Some | 1 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Finding site | Cerebellar vermis structure | true | Inferred relationship | Some | 3 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Associated morphology | Congenital cavitation | false | Inferred relationship | Some | 4 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 3 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Finding site | Fourth ventricle structure | false | Inferred relationship | Some | 4 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Associated morphology | Congenital malrotation (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Finding site | Cerebellar vermis structure | true | Inferred relationship | Some | 2 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Associated morphology | Cataract | false | Inferred relationship | Some | 1 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Associated morphology | Cystic dilatation (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Associated morphology | Cystic dilatation (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Associated morphology | Opacity | true | Inferred relationship | Some | 1 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Finding site | Fourth ventricle structure | true | Inferred relationship | Some | 5 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Finding site | Infratentorial brain structure (body structure) | true | Inferred relationship | Some | 4 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 6 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)