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719518004: Autosomal dominant palmoplantar keratoderma and congenital alopecia (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
5402147012 A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402148019 A rare genetic skin disorder characterised by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Is a Congenital alopecia true Inferred relationship Some
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Is a Ectodermal dysplasia false Inferred relationship Some
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Is a Autosomal dominant hereditary disorder true Inferred relationship Some
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Is a Hereditary palmoplantar keratoderma true Inferred relationship Some
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Is a Hereditary disorder of the integument false Inferred relationship Some
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Has definitional manifestation Abnormal keratinization false Inferred relationship Some
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Associated morphology dysgenese false Inferred relationship Some 8
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Occurrence Congenital false Inferred relationship Some 8
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Finding site Skin structure false Inferred relationship Some 8
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Occurrence Congenital false Inferred relationship Some 9
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Occurrence Congenital false Inferred relationship Some 6
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Associated morphology Hyperkeratosis false Inferred relationship Some 7
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Finding site Skin structure false Inferred relationship Some 7
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Associated morphology Congenital absence false Inferred relationship Some 9
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Finding site Hair structure (body structure) false Inferred relationship Some 9
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Associated morphology kongenit dysplasi false Inferred relationship Some 6
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Finding site Ectoderm structure false Inferred relationship Some 6
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Is a Congenital ectodermal defect true Inferred relationship Some
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Has interpretation Abnormal false Inferred relationship Some 4
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Interprets Keratinization false Inferred relationship Some 4
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Occurrence Congenital true Inferred relationship Some 1
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Occurrence Congenital true Inferred relationship Some 3
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Finding site Hair structure (body structure) true Inferred relationship Some 1
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Associated morphology Congenital absence false Inferred relationship Some 1
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Associated morphology Hyperkeratosis true Inferred relationship Some 2
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Associated morphology kongenit dysplasi false Inferred relationship Some 3
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Finding site Ectoderm structure true Inferred relationship Some 3
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Finding site Skin structure true Inferred relationship Some 2
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Associated morphology Dysplasia true Inferred relationship Some 3
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Finding site Skin structure of sole of foot true Inferred relationship Some 4
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Associated morphology Hyperkeratosis true Inferred relationship Some 5
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Associated morphology Hyperkeratosis true Inferred relationship Some 4
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Finding site Skin structure of palmar area of hand true Inferred relationship Some 5
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Is a Developmental hereditary disorder true Inferred relationship Some
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 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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