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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
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
3438331001000111 Leukoenzephalopathie - Palmoplantarkeratose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6357221000241111 syndrome de leucoencéphalopathie et kératose palmoplantaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6357221000241111 syndrome de leucoencéphalopathie et kératose palmoplantaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3438331001000111 Leukoenzephalopathie - Palmoplantarkeratose 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
Leukoencephalopathy, palmoplantar keratoderma syndrome Is a Leukoencephalopathy true Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy, palmoplantar keratoderma syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy, palmoplantar keratoderma syndrome Is a Punctate palmoplantar keratoderma (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy, palmoplantar keratoderma syndrome Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy, palmoplantar keratoderma syndrome Interprets Keratinisation true Inferred relationship Existential restriction modifier (core metadata concept) 1
Leukoencephalopathy, palmoplantar keratoderma syndrome Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 1
Leukoencephalopathy, palmoplantar keratoderma syndrome Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy, palmoplantar keratoderma syndrome Occurrence Adulthood false Inferred relationship Existential restriction modifier (core metadata concept) 2
Leukoencephalopathy, palmoplantar keratoderma syndrome Finding site Cerebral white matter structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Leukoencephalopathy, palmoplantar keratoderma syndrome Occurrence Early childhood false Inferred relationship Existential restriction modifier (core metadata concept) 3
Leukoencephalopathy, palmoplantar keratoderma syndrome Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 3
Leukoencephalopathy, palmoplantar keratoderma syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Leukoencephalopathy, palmoplantar keratoderma syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Leukoencephalopathy, palmoplantar keratoderma syndrome Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 4
Leukoencephalopathy, palmoplantar keratoderma syndrome Finding site Skin structure of palmar area of hand true Inferred relationship Existential restriction modifier (core metadata concept) 4
Leukoencephalopathy, palmoplantar keratoderma syndrome Is a Inherited disorder of keratinisation true Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy, palmoplantar keratoderma syndrome Finding site Skin structure of sole of foot (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Leukoencephalopathy, palmoplantar keratoderma syndrome Is a Keratosis (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy, palmoplantar keratoderma syndrome Is a Rough skin (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy, palmoplantar keratoderma syndrome Is a Rough skin of hands (finding) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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