778029000: FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (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)\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)

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

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
\Finding of brain\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)

\Disorder of head (disorder)\Disorder of brain (disorder)\...

\Mitochondrial encephalomyopathy (disorder)\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)

\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)

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

\Hereditary disorder of musculoskeletal system\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)

\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
\Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental and epileptic encephalopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3737331019 FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3737332014 FAST kinase domains 2-related infantile mitochondrial encephalomyopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3737333016 FASTKD2-related infantile mitochondrial encephalomyopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3737334010 A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

12182371000172114 encéphalomyopathie mitochondriale infantile associée au FASTKD2 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

12182381000172112 encéphalomyopathie mitochondriale infantile associée au domaine 'sérine/thréonine kinase de type 2 activée par le Fas' fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4881621000172112 FASTKD2-gerelateerde infantiele mitochondriale encefalomyopathie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	2
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)	Occurrence	Infancy	true	Inferred relationship	Some	1
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	1
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)	Occurrence	Infancy	true	Inferred relationship	Some	2
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)	Is a	Mitochondrial encephalomyopathy (disorder)	true	Inferred relationship	Some
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)	Is a	Developmental and epileptic encephalopathy	true	Inferred relationship	Some
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

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
3737331019	FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3737332014	FAST kinase domains 2-related infantile mitochondrial encephalomyopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3737333016	FASTKD2-related infantile mitochondrial encephalomyopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3737334010	A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
12182371000172114	encéphalomyopathie mitochondriale infantile associée au FASTKD2	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
12182381000172112	encéphalomyopathie mitochondriale infantile associée au domaine 'sérine/thréonine kinase de type 2 activée par le Fas'	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4881621000172112	FASTKD2-gerelateerde infantiele mitochondriale encefalomyopathie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)