773668008: Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Toxic metabolic encephalopathy\Metabolic encephalopathy\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Toxic metabolic encephalopathy\Metabolic encephalopathy\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
• \Central nervous system finding\Finding of brain\Disorder of brain\Toxic metabolic encephalopathy\Metabolic encephalopathy\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Central nervous system complication\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Toxic metabolic encephalopathy\Metabolic encephalopathy\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Central nervous system complication\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Toxic metabolic encephalopathy\Metabolic encephalopathy\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
• \Disease\Disorder of head (disorder)\Disorder of brain\Toxic metabolic encephalopathy\Metabolic encephalopathy\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
• \Disease\Metabolic disease\Metabolic encephalopathy\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

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
3725649018	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725650018	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725651019	Childhood encephalopathy due to thiamin pyrophosphokinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725596015	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3725597012	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, 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. Caused by homozygous or compound heterozygous mutation in the TPK1 gene on chromosome 7q35.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3725649018	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725650018	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725651019	Childhood encephalopathy due to thiamin pyrophosphokinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725596015	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3725597012	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, 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. Caused by homozygous or compound heterozygous mutation in the TPK1 gene on chromosome 7q35.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3445951001000112	Enzephalopathie der Kindheit durch Thiamin-Pyrophosphokinase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
964301000172113	encéphalopathie de l'enfant par déficit en thiamine pyrophosphokinase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
964301000172113	encéphalopathie de l'enfant par déficit en thiamine pyrophosphokinase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3445951001000112	Enzephalopathie der Kindheit durch Thiamin-Pyrophosphokinase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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