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

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Encephalopathy due to mitochondrial and peroxisomal fission defect

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

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

\Finding of brain\Disorder of brain\Toxic metabolic encephalopathy\Metabolic encephalopathy\Encephalopathy due to mitochondrial and peroxisomal fission defect

\Disorder of head\Disorder of brain\Toxic metabolic encephalopathy\Metabolic encephalopathy\Encephalopathy due to mitochondrial and peroxisomal fission defect

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Encephalopathy due to mitochondrial and peroxisomal fission defect
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Encephalopathy due to mitochondrial and peroxisomal fission defect
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Encephalopathy due to mitochondrial and peroxisomal fission defect

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

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

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 SNOMED CT core module

5089131014 Encephalopathy due to mitochondrial and peroxisomal fission defect en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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	SNOMED CT core module
5089131014	Encephalopathy due to mitochondrial and peroxisomal fission defect	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module