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50122000: Metabolic encephalopathy (disorder)

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

Descriptions:

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
123711000077111 encéphalopathie métabolique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

59 descendants. Search Descendants:

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) true Inferred relationship Some
Metabolic encephalopathy Finding site Brain structure true Inferred relationship Some 1
Metabolic encephalopathy Is a Toxic metabolic encephalopathy (disorder) false 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
Hypoglycaemic 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
Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by 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. Is a True Metabolic encephalopathy Inferred relationship Some
A rare, congenital disorder of glycosylation characterized by 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). Is a True Metabolic encephalopathy Inferred relationship Some
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by 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, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma. Is a True Metabolic encephalopathy Inferred relationship Some
A rare immune disease characterized by 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. 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
Toxic metabolic encephalopathy (disorder) Is a True Metabolic encephalopathy Inferred relationship Some

Reference Sets

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