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771184001: Leukoencephalopathy, palmoplantar keratoderma syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3704804017 Leukoencephalopathy, palmoplantar keratoderma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3704805016 Leukoencephalopathy, palmoplantar keratoderma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3789564010 Leucoencephalopathy, palmoplantar keratoderma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3704806015 A rare genetic epidermal disease with characteristics of early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3789563016 A rare genetic epidermal disease with characteristics of early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leucoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. 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
Leukoencephalopathy, palmoplantar keratoderma syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Leukoencephalopathy, palmoplantar keratoderma syndrome morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 4
Leukoencephalopathy, palmoplantar keratoderma syndrome localisation d'une constatation (attribut) peau de la région palmaire de la main (structure corporelle) true Inferred relationship Some 4
Leukoencephalopathy, palmoplantar keratoderma syndrome est un(e) (attribut) Inherited disorder of keratinization true Inferred relationship Some
Leukoencephalopathy, palmoplantar keratoderma syndrome localisation d'une constatation (attribut) Skin structure of sole of foot true Inferred relationship Some 3
Leukoencephalopathy, palmoplantar keratoderma syndrome est un(e) (attribut) kératose false Inferred relationship Some
Leukoencephalopathy, palmoplantar keratoderma syndrome est un(e) (attribut) Rough skin (finding) false Inferred relationship Some
Leukoencephalopathy, palmoplantar keratoderma syndrome est un(e) (attribut) Rough skin of hands true Inferred relationship Some
Leukoencephalopathy, palmoplantar keratoderma syndrome est un(e) (attribut) leuco-encéphalopathie true Inferred relationship Some
Leukoencephalopathy, palmoplantar keratoderma syndrome est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Leukoencephalopathy, palmoplantar keratoderma syndrome est un(e) (attribut) Punctate palmoplantar keratoderma (disorder) true Inferred relationship Some
Leukoencephalopathy, palmoplantar keratoderma syndrome est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Leukoencephalopathy, palmoplantar keratoderma syndrome interprète (attribut) Keratinization, function (observable entity) true Inferred relationship Some 1
Leukoencephalopathy, palmoplantar keratoderma syndrome a pour interprétation (attribut) anormal true Inferred relationship Some 1
Leukoencephalopathy, palmoplantar keratoderma syndrome est un(e) (attribut) Hereditary disorder of the integument false Inferred relationship Some
Leukoencephalopathy, palmoplantar keratoderma syndrome survenue (attribut) Adulthood (qualifier value) false Inferred relationship Some 2
Leukoencephalopathy, palmoplantar keratoderma syndrome localisation d'une constatation (attribut) Cerebral white matter structure true Inferred relationship Some 2
Leukoencephalopathy, palmoplantar keratoderma syndrome survenue (attribut) Early childhood (qualifier value) false Inferred relationship Some 3
Leukoencephalopathy, palmoplantar keratoderma syndrome morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 3
Leukoencephalopathy, palmoplantar keratoderma syndrome localisation d'une constatation (attribut) structure de la peau 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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