717052002: Maternally inherited Leigh syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Encephalopathy\Leigh's disease\Maternally inherited Leigh syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Leigh's disease\Maternally inherited Leigh syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Leigh's disease\Maternally inherited Leigh syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\Leigh's disease\Maternally inherited Leigh syndrome

\Disorder of head\Encephalopathy\Leigh's disease\Maternally inherited Leigh syndrome

\Disease\Genetic disease\Hereditary disease\Maternally inherited mitochondrial deoxyribonucleic acid disease\Maternally inherited Leigh syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Leigh's disease\Maternally inherited Leigh syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Leigh's disease\Maternally inherited Leigh syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Leigh's disease\Maternally inherited Leigh syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Leigh's disease\Maternally inherited Leigh syndrome
\Disease\Disorder of body system\Neurological disorder\System disorder of the nervous system\Leigh's disease\Maternally inherited Leigh syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Leigh's disease\Maternally inherited Leigh syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Leigh's disease\Maternally inherited Leigh syndrome
\Disease\Disorder of head\Encephalopathy\Leigh's disease\Maternally inherited Leigh syndrome

Status: current, Defined. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3308295018 Maternally inherited Leigh syndrome (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3308296017 Maternally inherited Leigh syndrome en Synonym Active Initial character case insensitive SNOMED CT core

3308297014 Maternally inherited Leigh disease en Synonym Active Initial character case insensitive SNOMED CT core

3308298016 Maternally inherited infantile subacute necrotizing encephalopathy en Synonym Active Case insensitive SNOMED CT core

3308299012 Maternally inherited infantile subacute necrotising encephalopathy en Synonym Active Case insensitive SNOMED CT core

3308300016 A rare subtype of Leigh syndrome with clinical characteristics of encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay. Onset in infancy or early childhood resulting from maternally-inherited mutations in mitochondrial DNA. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Maternally inherited Leigh syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Maternally inherited Leigh syndrome	Is a	Maternally inherited mitochondrial deoxyribonucleic acid disease	true	Inferred relationship	Some
Maternally inherited Leigh syndrome	Occurrence	Infancy	true	Inferred relationship	Some	1
Maternally inherited Leigh syndrome	Is a	Leigh's disease	true	Inferred relationship	Some
Maternally inherited Leigh syndrome	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Maternally inherited Leigh syndrome	Finding site	Brain structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3308295018	Maternally inherited Leigh syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3308296017	Maternally inherited Leigh syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3308297014	Maternally inherited Leigh disease	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3308298016	Maternally inherited infantile subacute necrotizing encephalopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3308299012	Maternally inherited infantile subacute necrotising encephalopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3308300016	A rare subtype of Leigh syndrome with clinical characteristics of encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay. Onset in infancy or early childhood resulting from maternally-inherited mutations in mitochondrial DNA.	en	Definition	Active	Case sensitive	SNOMED CT core