Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3425300014 | X-linked spastic paraplegia type 2 (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
3425301013 | X-linked spastic paraplegia type 2 | en | Synonym | Active | Case sensitive | SNOMED CT core |
3425302018 | Spastic gait type 2 | en | Synonym | Active | Case insensitive | SNOMED CT core |
3425303011 | Spastic paraparesis type 2 | en | Synonym | Active | Case insensitive | SNOMED CT core |
3425304017 | Spastic paraplegia type 2 | en | Synonym | Active | Case insensitive | SNOMED CT core |
3425305016 | An X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated spastic paraplegia. Spastic paraplegia type 2 is due to missense substitutions affecting the PLP1 gene. PLP1 encodes the proteolipid protein (PLP), the most abundant protein of the myelin sheath in the central nervous system, and its alternatively spliced isoform (DM20). Transmission is X-linked recessive. | en | Definition | Active | Case sensitive | SNOMED CT core |
3425306015 | An X-linked leucodystrophy characterised primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated spastic paraplegia. Spastic paraplegia type 2 is due to missense substitutions affecting the PLP1 gene. PLP1 encodes the proteolipid protein (PLP), the most abundant protein of the myelin sheath in the central nervous system, and its alternatively spliced isoform (DM20). Transmission is X-linked recessive. | en | Definition | Active | Case sensitive | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
Unit of use quantity reference set
Description inactivation indicator reference set