Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5405026019 | Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5405027011 | Leucoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterised by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leucoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3704804017 | Leukoencephalopathy, palmoplantar keratoderma syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3704805016 | Leukoencephalopathy, palmoplantar keratoderma syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3789564010 | Leucoencephalopathy, palmoplantar keratoderma syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
6357221000241111 | syndrome de leucoencéphalopathie et kératose palmoplantaire | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3438331001000111 | Leukoenzephalopathie - Palmoplantarkeratose | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. | Is a | Leukoencephalopathy | true | Inferred relationship | Some | ||
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. | Is a | Punctate palmoplantar keratoderma (disorder) | true | Inferred relationship | Some | ||
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. | Interprets | Keratinization | true | Inferred relationship | Some | 1 | |
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. | Has interpretation | Abnormal | true | Inferred relationship | Some | 1 | |
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. | Occurrence | Adulthood | false | Inferred relationship | Some | 2 | |
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. | Finding site | Cerebral white matter structure | true | Inferred relationship | Some | 2 | |
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. | Occurrence | Early childhood (qualifier value) | false | Inferred relationship | Some | 3 | |
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 3 | |
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. | Finding site | Skin structure | false | Inferred relationship | Some | 3 | |
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 4 | |
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. | Finding site | Skin structure of palmar area of hand | true | Inferred relationship | Some | 4 | |
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. | Is a | Inherited disorder of keratinization | true | Inferred relationship | Some | ||
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. | Finding site | Skin structure of sole of foot | true | Inferred relationship | Some | 3 | |
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. | Is a | Keratosis | false | Inferred relationship | Some | ||
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. | Is a | Rough skin (finding) | false | Inferred relationship | Some | ||
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. | Is a | Rough skin of hands | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)