1260128008: Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\WARS2-related combined oxidative phosphorylation defect
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\WARS2-related combined oxidative phosphorylation defect
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\WARS2-related combined oxidative phosphorylation defect
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\WARS2-related combined oxidative phosphorylation defect
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\WARS2-related combined oxidative phosphorylation defect
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\WARS2-related combined oxidative phosphorylation defect
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\WARS2-related combined oxidative phosphorylation defect
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\WARS2-related combined oxidative phosphorylation defect
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\WARS2-related combined oxidative phosphorylation defect
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\WARS2-related combined oxidative phosphorylation defect
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\WARS2-related combined oxidative phosphorylation defect
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\WARS2-related combined oxidative phosphorylation defect
• \Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\WARS2-related combined oxidative phosphorylation defect
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\WARS2-related combined oxidative phosphorylation defect
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\WARS2-related combined oxidative phosphorylation defect

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5159278013	WARS2-related combined oxidative phosphorylation defect	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5159279017	Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5159280019	Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5159281015	Mitochondrial tryptophanyl-tRNA synthetase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5400400017	A rare mitochondrial oxidative phosphorylation disorder characterized by a spectrum of three main clinical phenotypes comprising a severe neonatal phenotype with early fatal lactic acidosis, a more protracted course with early-onset developmental delay, motor weakness, extrapyramidal signs, with or without epilepsy, and a phenotype with normal early development and Parkinson-like symptoms starting around the age of one year. Additional, variably reported, signs and symptoms include cardiomyopathy, optic anomalies, hepatosplenomegaly, and abnormal brain MRI findings, among others. Deficiencies in mitochondrial oxidative phosphorylation enzymes are inconsistent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400401018	A rare mitochondrial oxidative phosphorylation disorder characterised by a spectrum of three main clinical phenotypes comprising a severe neonatal phenotype with early fatal lactic acidosis, a more protracted course with early-onset developmental delay, motor weakness, extrapyramidal signs, with or without epilepsy, and a phenotype with normal early development and Parkinson-like symptoms starting around the age of one year. Additional, variably reported, signs and symptoms include cardiomyopathy, optic anomalies, hepatosplenomegaly, and abnormal brain MRI findings, among others. Deficiencies in mitochondrial oxidative phosphorylation enzymes are inconsistent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5159278013	WARS2-related combined oxidative phosphorylation defect	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5159279017	Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5159280019	Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5159281015	Mitochondrial tryptophanyl-tRNA synthetase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5159282010	A rare mitochondrial oxidative phosphorylation disorder with characteristics of a spectrum of three main clinical phenotypes comprising a severe neonatal phenotype with early fatal lactic acidosis, a more protracted course with early-onset developmental delay, motor weakness, extrapyramidal signs with or without epilepsy and a phenotype with normal early development and Parkinson-like symptoms starting around the age of one year. Additional variably reported signs and symptoms include cardiomyopathy, optic anomalies, hepatosplenomegaly and abnormal brain MRI findings among others. Deficiencies in mitochondrial oxidative phosphorylation enzymes are inconsistent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400400017	A rare mitochondrial oxidative phosphorylation disorder characterized by a spectrum of three main clinical phenotypes comprising a severe neonatal phenotype with early fatal lactic acidosis, a more protracted course with early-onset developmental delay, motor weakness, extrapyramidal signs, with or without epilepsy, and a phenotype with normal early development and Parkinson-like symptoms starting around the age of one year. Additional, variably reported, signs and symptoms include cardiomyopathy, optic anomalies, hepatosplenomegaly, and abnormal brain MRI findings, among others. Deficiencies in mitochondrial oxidative phosphorylation enzymes are inconsistent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400401018	A rare mitochondrial oxidative phosphorylation disorder characterised by a spectrum of three main clinical phenotypes comprising a severe neonatal phenotype with early fatal lactic acidosis, a more protracted course with early-onset developmental delay, motor weakness, extrapyramidal signs, with or without epilepsy, and a phenotype with normal early development and Parkinson-like symptoms starting around the age of one year. Additional, variably reported, signs and symptoms include cardiomyopathy, optic anomalies, hepatosplenomegaly, and abnormal brain MRI findings, among others. Deficiencies in mitochondrial oxidative phosphorylation enzymes are inconsistent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

Back to Start