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724224007: Palmoplantar keratoderma with clinodactyly syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3432821017 Palmoplantar keratoderma with clinodactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3432822012 Palmoplantar keratoderma with clinodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3432823019 Keratosis palmaris et plantaris with clinodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403279019 Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403280016 Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3432821017 Palmoplantar keratoderma with clinodactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3432822012 Palmoplantar keratoderma with clinodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3432823019 Keratosis palmaris et plantaris with clinodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3432824013 Syndrome with the association of palmoplantar keratosis and clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403279019 Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403280016 Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3409131001000111 Keratosis palmaris et plantaris - Klinodaktylie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6455901000241112 syndrome de kératodermie palmoplantaire avec clinodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6455911000241114 syndrome de kératose palmoplantaire avec clinodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6455901000241112 syndrome de kératodermie palmoplantaire avec clinodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6455911000241114 syndrome de kératose palmoplantaire avec clinodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3409131001000111 Keratosis palmaris et plantaris - Klinodaktylie 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
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Is a Congenital clinodactyly false Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Is a Hereditary diffuse palmoplantar keratoderma true Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Associated morphology Congenital abnormal curvature false Inferred relationship Existential restriction modifier (core metadata concept) 4
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Finding site Little finger structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Associated morphology Hyperkeratosis false Inferred relationship Existential restriction modifier (core metadata concept) 6
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Interprets Keratinisation false Inferred relationship Existential restriction modifier (core metadata concept) 3
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Has interpretation Abnormal false Inferred relationship Existential restriction modifier (core metadata concept) 3
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Is a Congenital anomaly of skin (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Finding site Little finger structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 2
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Associated morphology Congenital abnormal curvature true Inferred relationship Existential restriction modifier (core metadata concept) 1
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Is a Autosomal dominant ichthyosis (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Finding site Skin structure of palmar area of hand false Inferred relationship Existential restriction modifier (core metadata concept) 4
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Finding site Skin structure of sole of foot (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 4
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Is a Genodermatosis true Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 3
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Finding site Entire skin of palmar area of hand true Inferred relationship Existential restriction modifier (core metadata concept) 3
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Finding site Entire skin of sole of foot true Inferred relationship Existential restriction modifier (core metadata concept) 4
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Is a Congenital clinodactyly of little finger true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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