Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2025. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5439594014 | Spastic paraparesis, cataracts, speech delay syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5439595010 | Spastic paraparesis, cataracts, speech delay syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5439596011 | Fatty acyl-CoA reductase 1 superactivity | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5439597019 | A rare disorder of fatty acid biosynthesis characterized by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5439598012 | A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Spastic paraparesis, cataracts, speech delay syndrome (disorder) | Is a | Autosomal dominant complex hereditary spastic paraplegia (disorder) | true | Inferred relationship | Some | ||
| Spastic paraparesis, cataracts, speech delay syndrome (disorder) | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Spastic paraparesis, cataracts, speech delay syndrome (disorder) | Is a | Chronic metabolic disorder | true | Inferred relationship | Some | ||
| Spastic paraparesis, cataracts, speech delay syndrome (disorder) | Is a | Developmental delay | true | Inferred relationship | Some | ||
| Spastic paraparesis, cataracts, speech delay syndrome (disorder) | Is a | Disorder of lipid metabolism | true | Inferred relationship | Some | ||
| Spastic paraparesis, cataracts, speech delay syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Spastic paraparesis, cataracts, speech delay syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Spastic paraparesis, cataracts, speech delay syndrome (disorder) | Is a | Bilateral cataracts | true | Inferred relationship | Some | ||
| Spastic paraparesis, cataracts, speech delay syndrome (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 4 | |
| Spastic paraparesis, cataracts, speech delay syndrome (disorder) | Interprets | Movement | false | Inferred relationship | Some | 8 | |
| Spastic paraparesis, cataracts, speech delay syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 10 | |
| Spastic paraparesis, cataracts, speech delay syndrome (disorder) | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 6 | |
| Spastic paraparesis, cataracts, speech delay syndrome (disorder) | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 7 | |
| Spastic paraparesis, cataracts, speech delay syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| Spastic paraparesis, cataracts, speech delay syndrome (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 9 | |
| Spastic paraparesis, cataracts, speech delay syndrome (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 9 | |
| Spastic paraparesis, cataracts, speech delay syndrome (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
| Spastic paraparesis, cataracts, speech delay syndrome (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Spastic paraparesis, cataracts, speech delay syndrome (disorder) | Finding site | Structure of lens of right eye | true | Inferred relationship | Some | 2 | |
| Spastic paraparesis, cataracts, speech delay syndrome (disorder) | Associated morphology | Opacity | true | Inferred relationship | Some | 2 | |
| Spastic paraparesis, cataracts, speech delay syndrome (disorder) | Finding site | Structure of lens of left eye | true | Inferred relationship | Some | 3 | |
| Spastic paraparesis, cataracts, speech delay syndrome (disorder) | Associated morphology | Opacity | true | Inferred relationship | Some | 3 | |
| Spastic paraparesis, cataracts, speech delay syndrome (disorder) | Finding site | Structure of motor nervous system (body structure) | true | Inferred relationship | Some | 8 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR