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716105001: Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3304749017 Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3304750017 Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3304751018 Non-epidermolytic palmoplantar keratoderma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401224019 A rare isolated diffuse palmoplantar keratoderma characterized by diffuse, homogeneous, mild to thick, brown-to-yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers). Skin biopsy shows non-epidermolytic changes. There are no changes in hair, teeth or nails, and no syndromic involvement of other organs. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401225018 A rare isolated diffuse palmoplantar keratoderma characterised by diffuse, homogeneous, mild to thick, brown-to-yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers). Skin biopsy shows non-epidermolytic changes. There are no changes in hair, teeth or nails, and no syndromic involvement of other organs. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304749017 Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3304750017 Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3304751018 Non-epidermolytic palmoplantar keratoderma en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3304751018 Non-epidermolytic palmoplantar keratoderma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304752013 This syndrome has manifestation of a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden. Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304802010 This syndrome has manifestation of a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden. Transmission is autosomal dominant and the causative gene has been localized to chromosome 12q11-q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401224019 A rare isolated diffuse palmoplantar keratoderma characterized by diffuse, homogeneous, mild to thick, brown-to-yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers). Skin biopsy shows non-epidermolytic changes. There are no changes in hair, teeth or nails, and no syndromic involvement of other organs. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401225018 A rare isolated diffuse palmoplantar keratoderma characterised by diffuse, homogeneous, mild to thick, brown-to-yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers). Skin biopsy shows non-epidermolytic changes. There are no changes in hair, teeth or nails, and no syndromic involvement of other organs. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3419641001000110 Palmoplantarkeratose, nichtepidermolytische de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5816261000241111 kératodermie palmoplantaire diffuse autosomique dominante de type Norrbotten fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5816261000241111 kératodermie palmoplantaire diffuse autosomique dominante de type Norrbotten fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3419641001000110 Palmoplantarkeratose, nichtepidermolytische 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
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) Is a Hereditary diffuse palmoplantar keratoderma true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) Associated morphology Hyperkeratosis false Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) Has interpretation Abnormal false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) Interprets Keratinisation false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) Finding site Skin structure of sole of foot (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) Finding site Skin structure of palmar area of hand false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) Finding site Entire skin of palmar area of hand true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) Finding site Entire skin of sole of foot 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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