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722205008: Palmoplantar keratoderma Nagashima type (disorder)


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


0 descendants.

Expanded Value Set


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)

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