765403009: F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome

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

\Finding of brain\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome

\Disorder of head (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome

\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial DNA\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
\Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial DNA\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
\Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial DNA\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3658351012 Mitochondrial DNA depletion syndrome 13 encephalomyopathic type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3658352017 FBXL4-related early onset mitochondrial encephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3658353010 FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3658354016 FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3658355015 F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3658356019 F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3658357011 A severe disease with onset in infancy primarily associated with brain dysfunction combined with muscle weakness. Symptoms include hypotonia, failure to thrive, delayed development of mental and motor skills, severely impaired speech development, seizures, movement abnormalities, microcephaly and cerebral atrophy. All individuals with the disease have lactic acidosis. Also associated with congenital heart defects or arrhythmias, vision problems, hearing loss, hepatopathy and immune deficiency. Caused by mutation in the FBXL4 gene responsible for producing a protein found within mitochondria. Inherited in an autosomal recessive pattern. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4155951000052116 FBXL4-relaterat mitokondrie-DNA-depletionssyndrom, encefalomyopatisk form sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome	Finding site	Brain structure	true	Inferred relationship	Some	1
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome	Is a	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3658351012	Mitochondrial DNA depletion syndrome 13 encephalomyopathic type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3658352017	FBXL4-related early onset mitochondrial encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3658353010	FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3658354016	FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3658355015	F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3658356019	F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3658357011	A severe disease with onset in infancy primarily associated with brain dysfunction combined with muscle weakness. Symptoms include hypotonia, failure to thrive, delayed development of mental and motor skills, severely impaired speech development, seizures, movement abnormalities, microcephaly and cerebral atrophy. All individuals with the disease have lactic acidosis. Also associated with congenital heart defects or arrhythmias, vision problems, hearing loss, hepatopathy and immune deficiency. Caused by mutation in the FBXL4 gene responsible for producing a protein found within mitochondria. Inherited in an autosomal recessive pattern.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4155951000052116	FBXL4-relaterat mitokondrie-DNA-depletionssyndrom, encefalomyopatisk form	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)