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717184007: keratoderma palmoplantaris punctata type 1 (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
3308619016 Punctate palmoplantar keratoderma type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308620010 Punctate palmoplantar keratoderma type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308621014 Buschke Fischer Brauer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308622019 Keratodermia palmoplantaris papulosa Buschke Fischer Brauer type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
6391231000146113 keratoderma palmoplantaris punctata type 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6391241000146117 syndroom van Buschke-Fischer-Brauer nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6391251000146119 keratoderma palmoplantaris punctata type 1 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6391261000146116 keratoderma palmoplantaris papulosa type 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6391271000146110 puntvormige hyperkeratose van handpalm of voetzool type 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6391281000146112 Buschke-Fischer-Brauer-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6391301000146113 PPKP1 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6391921000146118 puntvormige palmoplantaire keratodermie type 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3308623012 A very rare hereditary skin disease with manifestation of irregularly distributed epidermal hyperkeratosis of the palms and soles. Reported in 35 families worldwide to date. The lesions usually start to develop in early adolescence but can also present later in life. Mutations in the AAGAB gene (15q22.33-q23) have recently been identified as one of the causes. Mutations in the COL14A1 gene (8q23) have also been identified as causal in some cases in Asia that seem to have a similar phenotype 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
Punctate palmoplantar keratoderma type 1 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Punctate palmoplantar keratoderma type 1 (disorder) Is a Hereditary disorder of the integument false Inferred relationship Some
Punctate palmoplantar keratoderma type 1 (disorder) Is a Punctate palmoplantar keratoderma (disorder) true Inferred relationship Some
Punctate palmoplantar keratoderma type 1 (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Some
Punctate palmoplantar keratoderma type 1 (disorder) Finding site Skin structure false Inferred relationship Some 3
Punctate palmoplantar keratoderma type 1 (disorder) Finding site Skin structure false Inferred relationship Some 4
Punctate palmoplantar keratoderma type 1 (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 3
Punctate palmoplantar keratoderma type 1 (disorder) Occurrence Congenital false Inferred relationship Some 3
Punctate palmoplantar keratoderma type 1 (disorder) Associated morphology Hyperkeratosis false Inferred relationship Some 4
Punctate palmoplantar keratoderma type 1 (disorder) Has interpretation Abnormal false Inferred relationship Some 1
Punctate palmoplantar keratoderma type 1 (disorder) Interprets Keratinization false Inferred relationship Some 1
Punctate palmoplantar keratoderma type 1 (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 2
Punctate palmoplantar keratoderma type 1 (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 1
Punctate palmoplantar keratoderma type 1 (disorder) Finding site Skin structure of palmar area of hand true Inferred relationship Some 2
Punctate palmoplantar keratoderma type 1 (disorder) Finding site Skin structure of sole of foot (body structure) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

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