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719518004: kératodermie palmoplantaire et alopécie congénitale autosomique dominante (trouble)


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

Descriptions:

Id Description Lang Type Status Case? Module
3316663010 Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316664016 Autosomal dominant palmoplantar keratoderma and congenital alopecia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316665015 Palmoplantar keratoderma and congenital alopecia Stevanovic type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
754361000241115 kératodermie palmoplantaire et alopécie congénitale autosomique dominante (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
942261000172115 kératodermie palmoplantaire et alopécie congénitale autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
981861000172115 hyperkératose palmoplantaire et alopécie congénitale autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3316666019 A rare genetic skin disorder with the absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. To date, ten individuals have been reported. Usually presents during infancy with manifestations of fading of facial, scalp and body hair within the first months of life without subsequent re-growth. Body and facial keratosis pilaris are additional features that appear in the following years. Palmoplantar keratoderma develops during infancy and may have an unusual pattern. The genetic basis is unknown. Transmission appears to be autosomal dominant. 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
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) localisation d'une constatation (attribut) Hair structure (body structure) true Inferred relationship Some 1
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 1
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 2
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 3
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) localisation d'une constatation (attribut) Ectoderm structure true Inferred relationship Some 3
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 2
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 3
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) localisation d'une constatation (attribut) Skin structure of sole of foot true Inferred relationship Some 4
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 5
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 4
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) localisation d'une constatation (attribut) peau de la région palmaire de la main (structure corporelle) true Inferred relationship Some 5
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 1
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) est un(e) (attribut) Congenital alopecia true Inferred relationship Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) est un(e) (attribut) Ectodermal dysplasia false Inferred relationship Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) est un(e) (attribut) Hereditary palmoplantar keratoderma true Inferred relationship Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) est un(e) (attribut) Hereditary disorder of the integument false Inferred relationship Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) est défini par la manifestation de (attribut) Abnormal keratinisation false Inferred relationship Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 8
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) survenue (attribut) congénital false Inferred relationship Some 8
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 8
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) survenue (attribut) congénital false Inferred relationship Some 9
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) morphologie associée (attribut) Hyperkeratosis false Inferred relationship Some 7
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 7
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 9
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) localisation d'une constatation (attribut) Hair structure (body structure) false Inferred relationship Some 9
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 6
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) localisation d'une constatation (attribut) Ectoderm structure false Inferred relationship Some 6
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) est un(e) (attribut) Congenital ectodermal defect true Inferred relationship Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) a pour interprétation (attribut) anormal false Inferred relationship Some 4
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) interprète (attribut) Keratinization, function (observable entity) false Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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