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29570005: Leigh's disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
49474011 Leigh's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
49475012 Infantile necrotizing encephalomyelopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
49476013 Subacute necrotizing encephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
49477016 Subacute necrotizing encephalomyelopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
484329016 Subacute necrotising encephalomyelopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
484330014 Subacute necrotising encephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
484331013 Infantile necrotising encephalomyelopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
760478017 Leigh's disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
1216300016 SNEM - Subacute necrotising encephalomyelopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1217799019 SNEM - Subacute necrotizing encephalomyelopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1226375014 Leigh syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2842378010 Leigh disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2951694017 Leighs disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4485441000241117 encéphalomyopathie nécrosante subaigüe fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
2301151000195113 SNEM - Subakute nekrotisierende Enzephalomyelopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
2301161000195111 Infantile nekrotisierende Enzephalomyelopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
2301171000195117 Leigh-Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3389361001000114 Leigh-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Leigh's disease Is a System disorder of the nervous system (disorder) true Inferred relationship Some
Leigh's disease Is a Degenerative disease of the central nervous system false Inferred relationship Some
Leigh's disease Is a syndrome cérébral non spécifique false Inferred relationship Some
Leigh's disease Finding site Brain structure false Inferred relationship Some 1
Leigh's disease Finding site Structure of central nervous system (body structure) false Inferred relationship Some 2
Leigh's disease Associated morphology dégénérescence false Inferred relationship Some 1
Leigh's disease Is a Lesion of brain false Inferred relationship Some
Leigh's disease Associated morphology dégénérescence false Inferred relationship Some 1
Leigh's disease Finding site Brain structure true Inferred relationship Some 1
Leigh's disease Is a Hereditary disorder of nervous system false Inferred relationship Some
Leigh's disease Is a Disorder of brain (disorder) false Inferred relationship Some
Leigh's disease Is a Hereditary degenerative disease of central nervous system true Inferred relationship Some
Leigh's disease Associated morphology Degenerative abnormality true Inferred relationship Some 1
Leigh's disease Is a Degenerative brain disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA. Is a True Leigh's disease Inferred relationship Some
A rare degenerative mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. Is a True Leigh's disease Inferred relationship Some
Leigh-Syndrom mit nephrotischem Syndrom Is a False Leigh's disease Inferred relationship Some
Dystonia due to Leigh syndrome Due to True Leigh's disease Inferred relationship Some 3
Leigh syndrome due to cytochrome C oxidase deficiency (disorder) Is a True Leigh's disease Inferred relationship Some

Reference Sets

GB English

US English

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