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1299152003: Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5296164014 Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5296165010 Adult-onset progressive leukoencephalopathy, early-onset hearing loss en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5296166011 Adult-onset progressive leukoencephalopathy, early-onset deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5296167019 Adult-onset progressive leucoencephalopathy, early-onset deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5296168012 Adult-onset progressive leucoencephalopathy, early-onset hearing loss en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5296169016 A rare genetic neurological disorder characterised by congenital or early-onset sensorineural deafness and adult-onset progressive leucoencephalopathy. Progressive cognitive impairment and behavioural abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5296170015 A rare genetic neurological disorder characterized by congenital or early-onset sensorineural deafness and adult-onset progressive leukoencephalopathy. Progressive cognitive impairment and behavioral abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5296164014 Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5296165010 Adult-onset progressive leukoencephalopathy, early-onset hearing loss en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5296166011 Adult-onset progressive leukoencephalopathy, early-onset deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5296167019 Adult-onset progressive leucoencephalopathy, early-onset deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5296168012 Adult-onset progressive leucoencephalopathy, early-onset hearing loss en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5296169016 A rare genetic neurological disorder characterised by congenital or early-onset sensorineural deafness and adult-onset progressive leucoencephalopathy. Progressive cognitive impairment and behavioural abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5296170015 A rare genetic neurological disorder characterized by congenital or early-onset sensorineural deafness and adult-onset progressive leukoencephalopathy. Progressive cognitive impairment and behavioral abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported. 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
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) Is a Decreased hearing true Inferred relationship Existential restriction modifier (core metadata concept)
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) Is a Leukoencephalopathy true Inferred relationship Existential restriction modifier (core metadata concept)
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) Is a Sensorineural hearing loss true Inferred relationship Existential restriction modifier (core metadata concept)
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) Is a Chronic brain syndrome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) Finding site Cerebral white matter structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 1
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 1
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) Occurrence Adulthood true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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