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719104003: Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)


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
3314998013 Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314999017 Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315000017 Autosomal recessive palmoplantar keratoderma and congenital alopecia Wallis type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315001018 A rare genetic skin disorder with characteristics of congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. To date the syndrome has been reported in two families (seven affected individuals) plus an additional sporadic patient was likely affected by the same condition. 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. Skin thickening of palms and soles develops during infancy and may have an unusual pattern affecting the two sides of fingers and palms, but usually sparing the palmar surfaces. 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 recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 1
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure true Inferred relationship Some 2
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) localisation d'une constatation (attribut) Hair structure (body structure) true Inferred relationship Some 1
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 2
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) localisation d'une constatation (attribut) Skin structure of sole of foot true Inferred relationship Some 3
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 4
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 3
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) localisation d'une constatation (attribut) peau de la région palmaire de la main (structure corporelle) true Inferred relationship Some 4
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 1
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) est un(e) (attribut) Congenital alopecia true Inferred relationship Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) est un(e) (attribut) Ectodermal dysplasia false Inferred relationship Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) est un(e) (attribut) Hereditary palmoplantar keratoderma true Inferred relationship Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument false Inferred relationship Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) est défini par la manifestation de (attribut) Abnormal keratinisation false Inferred relationship Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 8
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 9
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 6
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure false Inferred relationship Some 6
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) morphologie associée (attribut) Hyperkeratosis false Inferred relationship Some 7
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 7
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 8
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 8
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 9
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) localisation d'une constatation (attribut) Hair structure (body structure) false Inferred relationship Some 9
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) est un(e) (attribut) Congenital ectodermal defect true Inferred relationship Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) interprète (attribut) Keratinization, function (observable entity) false Inferred relationship Some 3
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) a pour interprétation (attribut) anormal false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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