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717228004: hereditaire palmoplantaire keratodermie Gamborg-Nielsen-type (aandoening)


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
6238501000146114 erfelijke keratosis palmoplantaris type Gamborg-Nielsen nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12689241000146113 hereditaire palmoplantaire keratodermie Gamborg-Nielsen-type (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12741091000146113 hereditaire palmoplantaire keratodermie Gamborg-Nielsen-type nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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


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 Some
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Is a Hereditary disorder of the integument false Inferred relationship Some
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Is a Hereditary diffuse palmoplantar keratoderma (disorder) true Inferred relationship Some
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Some
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Finding site Skin structure false Inferred relationship Some 3
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Finding site Skin structure false Inferred relationship Some 4
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 3
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Occurrence Congenital false Inferred relationship Some 3
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Associated morphology Hyperkeratosis false Inferred relationship Some 4
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Has interpretation Abnormal false Inferred relationship Some 1
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Interprets Keratinization false Inferred relationship Some 1
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 2
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 1
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Finding site Skin structure of sole of foot (body structure) false Inferred relationship Some 1
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Finding site Skin structure of palmar area of hand false Inferred relationship Some 2
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Finding site Entire skin of palmar area of hand true Inferred relationship Some 1
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Finding site Entire skin of sole of foot true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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