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 |
3426263016 | Autosomal recessive spastic paraplegia type 44 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3426264010 | Autosomal recessive spastic paraplegia type 44 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3426265011 | A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. Caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3426266012 | A very rare, complex form of hereditary spastic paraplegia characterised by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leucodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. Caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
968281000172116 | SPG44 - spastic paraplegia type 44 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
978871000172111 | paraplégie spastique autosomique récessive type 44 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
887601000172115 | SPG44 - spastische paraplegie type 44 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
897361000172111 | autosomaal recessieve spastische paraplegie type 44 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autosomal recessive spastic paraplegia type 44 (disorder) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 44 (disorder) | Is a | Complicated hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 44 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 44 (disorder) | Finding site | Lower limb structure (body structure) | false | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 44 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 44 (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 44 (disorder) | Finding site | Cerebellar structure | false | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 44 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 44 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 44 (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 44 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Autosomal recessive spastic paraplegia type 44 (disorder) | Finding site | Lower limb structure (body structure) | false | Inferred relationship | Some | 2 | |
Autosomal recessive spastic paraplegia type 44 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 44 (disorder) | Is a | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 44 (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 44 (disorder) | Interprets | Movement | true | Inferred relationship | Some | 6 | |
Autosomal recessive spastic paraplegia type 44 (disorder) | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 2 | |
Autosomal recessive spastic paraplegia type 44 (disorder) | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 5 | |
Autosomal recessive spastic paraplegia type 44 (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 4 | |
Autosomal recessive spastic paraplegia type 44 (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets