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719518004: autosomaal dominante palmoplantaire keratodermie en congenitale alopecie (aandoening)


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
6352701000146114 PPK-CA type Stevanovic nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6352711000146111 palmoplantaire keratodermie en congenitale alopecie type Stevanovic nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6352721000146118 autosomaal dominante palmoplantaire keratodermie en congenitale alopecie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6352731000146116 autosomaal dominante palmoplantaire keratodermie en congenitale alopecie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6595721000146116 autosomaal dominante palmoplantaire hyperkeratose en congenitale alopecie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained 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) Is a Congenital alopecia true Inferred relationship Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Is a Ectodermal dysplasia false Inferred relationship Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Is a Hereditary palmoplantar keratoderma true Inferred relationship Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Is a Hereditary disorder of the integument false Inferred relationship Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 8
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Occurrence Congenital false Inferred relationship Some 8
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Finding site Skin structure false Inferred relationship Some 8
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Occurrence Congenital false Inferred relationship Some 9
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Occurrence Congenital false Inferred relationship Some 6
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Associated morphology Hyperkeratosis false Inferred relationship Some 7
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Finding site Skin structure false Inferred relationship Some 7
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 9
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Finding site Hair structure (body structure) false Inferred relationship Some 9
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 6
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Finding site Ectoderm structure false Inferred relationship Some 6
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Is a Congenital ectodermal defect true Inferred relationship Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Has interpretation Abnormal false Inferred relationship Some 4
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Interprets Keratinization false Inferred relationship Some 4
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Occurrence Congenital 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) Occurrence Congenital true Inferred relationship Some 3
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 1
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 1
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 2
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 3
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Finding site Ectoderm structure true Inferred relationship Some 3
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Finding site Skin structure true Inferred relationship Some 2
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Associated morphology Dysplasia true Inferred relationship Some 3
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Finding site Skin structure of sole of foot (body structure) true Inferred relationship Some 4
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 5
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 4
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Finding site Skin structure of palmar area of hand true Inferred relationship Some 5
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 1
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Is a Congenital dysplasia (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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