763366000: Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Leukoencephalopathy\Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)
• \Head finding (finding)\Finding of head region\Leukoencephalopathy\Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Leukoencephalopathy\Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Leukoencephalopathy\Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Leukoencephalopathy\Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Leukoencephalopathy\Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Leukoencephalopathy\Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)
• \Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)

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
3640229011	Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3640230018	COXPD12 - combined oxidative phosphorylation defect type 12	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3640231019	Combined oxidative phosphorylation defect type 12	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3640232014	Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404034015	A rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (including extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404035019	A rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (including extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterised by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3640229011	Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3640230018	COXPD12 - combined oxidative phosphorylation defect type 12	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3640231019	Combined oxidative phosphorylation defect type 12	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3640232014	Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3640233016	A rare genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (including extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form has characteristics of delayed psychomotor development, seizures, early-onset hypotonia and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age and temporary high lactate levels, with overall clinical improvement from the second year onward. The disease is caused by homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404034015	A rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (including extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404035019	A rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (including extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterised by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3433401001000117	Leukoenzephalopathie-Thalamus und Hirnstamm-Anomalien-Hoher Laktatwert-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
955401000172111	syndrome de leucoencéphalopathie-anomalies du thalamus et du tronc cérébral-hyperlactatémie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
958531000172112	COXPD12 - combined oxidative phosphorylation defect type 12	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
955401000172111	syndrome de leucoencéphalopathie-anomalies du thalamus et du tronc cérébral-hyperlactatémie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
958531000172112	COXPD12 - combined oxidative phosphorylation defect type 12	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3433401001000117	Leukoenzephalopathie-Thalamus und Hirnstamm-Anomalien-Hoher Laktatwert-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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