50122000: Metabolic encephalopathy (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy

\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy
\Disease\Metabolic disease\Metabolic encephalopathy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Metabolic encephalopathy	Is a	Metabolic disease	true	Inferred relationship	Some
Metabolic encephalopathy	Is a	Disorder of brain (disorder)	false	Inferred relationship	Some
Metabolic encephalopathy	Finding site	Brain structure	true	Inferred relationship	Some	1
Metabolic encephalopathy	Is a	Toxic metabolic encephalopathy (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hepatic encephalopathy	Is a	True	Metabolic encephalopathy	Inferred relationship	Some
Uremic encephalopathy	Is a	True	Metabolic encephalopathy	Inferred relationship	Some
Hypertensive encephalopathy	Is a	True	Metabolic encephalopathy	Inferred relationship	Some
Hypoglycemic encephalopathy	Is a	True	Metabolic encephalopathy	Inferred relationship	Some
Dialysis disequilibrium syndrome	Is a	True	Metabolic encephalopathy	Inferred relationship	Some
Dialysis dementia	Is a	True	Metabolic encephalopathy	Inferred relationship	Some
Anoxia of brain	Is a	False	Metabolic encephalopathy	Inferred relationship	Some
Glucose transporter protein type 1 deficiency syndrome (disorder)	Is a	True	Metabolic encephalopathy	Inferred relationship	Some
Myxoedema encephalopathy	Is a	True	Metabolic encephalopathy	Inferred relationship	Some
Myxedema coma	Is a	True	Metabolic encephalopathy	Inferred relationship	Some
Encephalopathy due to vitamin deficiency	Is a	True	Metabolic encephalopathy	Inferred relationship	Some
Hyponatraemic encephalopathy	Is a	True	Metabolic encephalopathy	Inferred relationship	Some
Secondary amyloid encephalopathy	Is a	True	Metabolic encephalopathy	Inferred relationship	Some
Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.	Is a	True	Metabolic encephalopathy	Inferred relationship	Some
Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.	Is a	True	Metabolic encephalopathy	Inferred relationship	Some
A rare genetic disorder of thiamine metabolism and transport with characteristics of the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities. Caused by homozygous mutation in the SLC25A19 gene on chromosome 17q25.	Is a	True	Metabolic encephalopathy	Inferred relationship	Some
A congenital disorder of glycosylation with characteristics of severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum). Caused by hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.	Is a	True	Metabolic encephalopathy	Inferred relationship	Some
A rare inborn error of metabolism disorder with early-onset acute encephalopathic episodes (frequently triggered by viral infections) associated with lactic acidosis and alpha-ketoglutaric aciduria which typically manifest with variable degrees of ataxia, generalised developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma. Caused by homozygous or compound heterozygous mutation in the TPK1 gene on chromosome 7q35.	Is a	True	Metabolic encephalopathy	Inferred relationship	Some
A rare genetic mitochondrial DNA depletion syndrome with characteristics of severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia. Caused by homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.	Is a	True	Metabolic encephalopathy	Inferred relationship	Some
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.	Is a	True	Metabolic encephalopathy	Inferred relationship	Some
A rare mitochondrial disease characterised by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities.	Is a	True	Metabolic encephalopathy	Inferred relationship	Some
Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders.	Is a	True	Metabolic encephalopathy	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
83497018	Metabolic encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
83498011	Metabolic brain syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
787876019	Metabolic encephalopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2075351000005111	Metabolisk encefalopati	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)