Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3331144018 | Palmoplantar keratoderma Nagashima type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3331145017 | Palmoplantar keratoderma Nagashima type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5402851012 | A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5429767019 | A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterised by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3331144018 | Palmoplantar keratoderma Nagashima type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3331145017 | Palmoplantar keratoderma Nagashima type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3331147013 | This disease is a non-syndromic diffuse palmoplantar keratoderma resembling a mild form of mal de Meleda. So far, it has been described in 20 individuals.Transmission is autosomal recessive. Evidence suggests this disease is caused by homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402851012 | A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5429767019 | A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterised by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3432231001000115 | Palmoplantarkeratose Typ Nagashima | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
903381000172117 | hyperkératose palmoplantaire type Nagashima | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
994751000172111 | kératodermie palmoplantaire type Nagashima | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
903381000172117 | hyperkératose palmoplantaire type Nagashima | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
994751000172111 | kératodermie palmoplantaire type Nagashima | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3432231001000115 | Palmoplantarkeratose Typ Nagashima | 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 |
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. | Is a | Hereditary disorder of the integument (disorder) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. | Is a | Hereditary diffuse palmoplantar keratoderma | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. | Has definitional manifestation | Abnormal keratinization | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. | Associated morphology | Hyperkeratosis | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. | Finding site | Skin structure | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. | Associated morphology | anomalie du développement | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 4 | |
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 4 | |
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. | Finding site | Skin structure | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 4 | |
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. | Is a | Congenital disease | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. | Interprets | Keratinisation | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. | Has interpretation | Abnormal | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. | Associated morphology | Hyperkeratosis | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. | Associated morphology | Hyperkeratosis | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. | Finding site | Skin structure of palmar area of hand | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. | Finding site | Skin structure of sole of foot (body structure) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. | Finding site | Entire skin of sole of foot | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. | Finding site | Entire skin of palmar area of hand | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)