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778010006: Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3736408013 Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3736410010 Skin fragillity, woolly hair, palmoplantar keratoderma syndrome en Synonym Active Case insensitive SNOMED CT core
3736411014 Skin fragility, wooly hair, palmoplantar keratoderma syndrome en Synonym Active Case insensitive SNOMED CT core
3736413012 A rare genetic ectodermal dysplasia syndrome with characteristics of persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Caused by homozygous or compound heterozygous mutation in the desmoplakin gene on chromosome 6p24. en Definition Active Case sensitive SNOMED CT core
3736414018 A rare genetic ectodermal dysplasia syndrome with characteristics of persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Caused by homozygous or compound heterozygous mutation in the desmoplakin gene on chromosome 6p24. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Occurrence Congenital true Inferred relationship Some 2
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Occurrence Congenital true Inferred relationship Some 3
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Is a Ectodermal dysplasia true Inferred relationship Some
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Is a Hereditary disorder of the integument false Inferred relationship Some
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Associated morphology Hyperkeratosis true Inferred relationship Some 3
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Is a Autosomal hereditary disorder true Inferred relationship Some
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Is a Congenital woolly hair true Inferred relationship Some
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Finding site Skin structure true Inferred relationship Some 3
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Finding site Ectoderm structure true Inferred relationship Some 2
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Finding site Hair shaft structure true Inferred relationship Some 1
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Has interpretation Abnormal true Inferred relationship Some 4
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 2
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Is a Hereditary diffuse palmoplantar keratoderma true Inferred relationship Some
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Interprets Keratinisation true Inferred relationship Some 4
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Occurrence Congenital true Inferred relationship Some 1
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Associated morphology Dysplasia true Inferred relationship Some 2
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Is a Congenital ichthyosis of skin false Inferred relationship Some
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Finding site Skin structure of palmar area of hand false Inferred relationship Some 6
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Is a Inherited disorder of keratinisation true Inferred relationship Some
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Is a Keratosis false Inferred relationship Some
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Finding site Skin structure of sole of foot false Inferred relationship Some 5
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Associated morphology Hyperkeratosis true Inferred relationship Some 6
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Associated morphology Hyperkeratosis true Inferred relationship Some 5
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Is a Rough skin false Inferred relationship Some
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Is a Rough skin of hands true Inferred relationship Some
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Finding site Entire skin of palmar area of hand true Inferred relationship Some 5
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Finding site Entire skin of sole of foot true Inferred relationship Some 6
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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