722212004: Severe X-linked mitochondrial encephalomyopathy (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy

\Central nervous system finding\Finding of brain\Encephalopathy\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked mitochondrial encephalomyopathy

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

\Finding of brain\Encephalopathy\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy

\Disorder of head\Encephalopathy\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy

\Muscle finding\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy

\Musculoskeletal finding\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Severe X-linked mitochondrial encephalomyopathy

\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Severe X-linked mitochondrial encephalomyopathy
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Severe X-linked mitochondrial encephalomyopathy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy
\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\Severe X-linked mitochondrial encephalomyopathy
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy
\Disease\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy
\Disease\Disorder of head\Encephalopathy\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Severe X-linked mitochondrial encephalomyopathy
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy
\Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Severe X-linked mitochondrial encephalomyopathy
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3331169018 Severe X-linked mitochondrial encephalomyopathy (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3331170017 Severe X-linked mitochondrial encephalomyopathy en Synonym Active Initial character case insensitive SNOMED CT core

3331171018 Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6 en Synonym Active Case insensitive SNOMED CT core

3331172013 Mitochondrial encephalomyopathy due to COXPD6 deficiency en Synonym Active Initial character case insensitive SNOMED CT core

3331174014 An extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder with characteristics of psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. Combined oxidative phosphorylation deficiency-6 (COXPD6) is caused by hemizygous mutation in the AIFM1 gene on chromosome Xq26.1. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe X-linked mitochondrial encephalomyopathy	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Severe X-linked mitochondrial encephalomyopathy	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Severe X-linked mitochondrial encephalomyopathy	Is a	Mitochondrial respiratory chain complexes disorder	true	Inferred relationship	Some
Severe X-linked mitochondrial encephalomyopathy	Occurrence	Congenital	true	Inferred relationship	Some	2
Severe X-linked mitochondrial encephalomyopathy	Finding site	Brain structure	true	Inferred relationship	Some	3
Severe X-linked mitochondrial encephalomyopathy	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	3
Severe X-linked mitochondrial encephalomyopathy	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Severe X-linked mitochondrial encephalomyopathy	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Severe X-linked mitochondrial encephalomyopathy	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Severe X-linked mitochondrial encephalomyopathy	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Severe X-linked mitochondrial encephalomyopathy	Is a	Mitochondrial encephalomyopathy	true	Inferred relationship	Some
Severe X-linked mitochondrial encephalomyopathy	Finding site	Brain structure	false	Inferred relationship	Some	2
Severe X-linked mitochondrial encephalomyopathy	Finding site	Skeletal muscle 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

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3331169018	Severe X-linked mitochondrial encephalomyopathy (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3331170017	Severe X-linked mitochondrial encephalomyopathy	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3331171018	Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6	en	Synonym	Active	Case insensitive	SNOMED CT core
3331172013	Mitochondrial encephalomyopathy due to COXPD6 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3331174014	An extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder with characteristics of psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. Combined oxidative phosphorylation deficiency-6 (COXPD6) is caused by hemizygous mutation in the AIFM1 gene on chromosome Xq26.1.	en	Definition	Active	Case sensitive	SNOMED CT core