1236807002: Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain\Toxic metabolic encephalopathy\Metabolic encephalopathy\Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Toxic metabolic encephalopathy\Metabolic encephalopathy\Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain\Toxic metabolic encephalopathy\Metabolic encephalopathy\Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Toxic metabolic encephalopathy\Metabolic encephalopathy\Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Toxic metabolic encephalopathy\Metabolic encephalopathy\Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain\Toxic metabolic encephalopathy\Metabolic encephalopathy\Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)
\Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)
\Disease\Metabolic disease\Metabolic encephalopathy\Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)
\Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5089130010 Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5089131014 Encephalopathy due to mitochondrial and peroxisomal fission defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5400243011 A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400244017 A rare mitochondrial disease characterised by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5089130010 Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5089131014 Encephalopathy due to mitochondrial and peroxisomal fission defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5089129017 A rare mitochondrial disease with characteristics of a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy among others. Age of onset and disease severity is also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy and white matter abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400243011 A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400244017 A rare mitochondrial disease characterised by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)	Is a	Intelligenzminderung	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)	Is a	Mitochondrial cytopathy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)	Is a	Metabolic encephalopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5089130010	Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5089131014	Encephalopathy due to mitochondrial and peroxisomal fission defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5400243011	A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400244017	A rare mitochondrial disease characterised by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5089130010	Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5089131014	Encephalopathy due to mitochondrial and peroxisomal fission defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5089129017	A rare mitochondrial disease with characteristics of a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy among others. Age of onset and disease severity is also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy and white matter abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400243011	A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400244017	A rare mitochondrial disease characterised by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core