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 |
3450937012 | Autosomal recessive spastic paraplegia type 23 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3450938019 | Autosomal recessive spastic paraplegia type 23 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3450939010 | Lison syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3450940012 | Spastic paraparesis, vitiligo, premature graying, characteristic facies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3450941011 | Spastic paraparesis, vitiligo, premature greying, characteristic facies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
762121000241113 | paraplégie spastique autosomique récessive type 23 (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
928091000172119 | SPG23 - spastic paraplegia type 23 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
962731000172111 | paraplégie spastique autosomique récessive type 23 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
4611839016 | A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair and characteristic facies (i.e. thin with sharp features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4611840019 | A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair and characteristic facies (i.e. thin with sharp features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets