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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
5401958017 Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401959013 Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterised by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314998013 Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
5401958017 Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401959013 Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterised by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3388111001000118 Palmoplantarkeratose - kongenitale Alopezie, autosomal-rezessiv de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5756481000241111 hyperkératose palmoplantaire et alopécie congénitale autosomique récessive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5756491000241113 kératodermie palmoplantaire et alopécie congénitale de type Wallis fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5756501000241118 syndrome autosomique récessif de kératodermie palmoplantaire et d'alopécie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5756481000241111 hyperkératose palmoplantaire et alopécie congénitale autosomique récessive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5756491000241113 kératodermie palmoplantaire et alopécie congénitale de type Wallis fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5756501000241118 syndrome autosomique récessif de kératodermie palmoplantaire et d'alopécie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3388111001000118 Palmoplantarkeratose - kongenitale Alopezie, autosomal-rezessiv 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
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Is a Congenital alopecia true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Is a Ectodermal dysplasia false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Is a Hereditary palmoplantar keratoderma true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 8
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 9
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Associated morphology Hyperkeratosis false Inferred relationship Existential restriction modifier (core metadata concept) 7
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 7
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 8
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 8
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 9
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Finding site Hair structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 9
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Is a Congenital ectodermal defect true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Interprets Keratinisation false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Has interpretation Abnormal false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Finding site Skin structure of sole of foot (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Finding site Skin structure of palmar area of hand true Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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