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717228004: Hereditary palmoplantar keratoderma Gamborg Nielsen 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
3308744016 Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3308745015 Hereditary palmoplantar keratoderma Gamborg Nielsen type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5401519018 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401520012 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308744016 Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3308745015 Hereditary palmoplantar keratoderma Gamborg Nielsen type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3308746019 The presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401519018 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401520012 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3442451001000112 Palmoplantarkeratose, hereditäre, Typ Gamborg-Nielsen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
872031000172114 kératodermie palmoplantaire héréditaire type Gamborg-Nielsen fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
885841000172112 hyperkératose palmoplantaire héréditaire type Gamborg-Nielsen fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
872031000172114 kératodermie palmoplantaire héréditaire type Gamborg-Nielsen fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
885841000172112 hyperkératose palmoplantaire héréditaire type Gamborg-Nielsen fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3442451001000112 Palmoplantarkeratose, hereditäre, Typ Gamborg-Nielsen 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
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Is a Hereditary diffuse palmoplantar keratoderma true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Associated morphology Hyperkeratosis false Inferred relationship Existential restriction modifier (core metadata concept) 4
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Has interpretation Abnormal false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Interprets Keratinisation false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Finding site Skin structure of sole of foot (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Finding site Skin structure of palmar area of hand false Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Finding site Entire skin of palmar area of hand true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary palmoplantar keratoderma Gamborg Nielsen 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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