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 |
3425262018 | Syndrome with characteristics of infantile symmetrical distal muscle weakness and atrophy of the lower limbs, bilateral anterior polar cataracts and Dandy-Walker malformation. It has been described in two brothers. No sensorineural or cognitive deficits were observed. The karyotypes of the two patients were normal. No mutations were found in the survival motor neurone (SMN), neuronal apoptosis inhibitory protein (NAIP) or androgen receptor genes. | 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 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets