773668008: encéphalopathie de l'enfant par déficit en thiamine pyrophosphokinase (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\encéphalopathie métabolique\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\complication liée au système nerveux central\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\encéphalopathie métabolique\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\encéphalopathie métabolique\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)
• \affection de la tête\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\encéphalopathie métabolique\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\complication liée au système nerveux central\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\encéphalopathie métabolique\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\encéphalopathie métabolique\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)
• \Disease\trouble métabolique\encéphalopathie métabolique\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)

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
771851000241111	encéphalopathie de l'enfant par déficit en thiamine pyrophosphokinase (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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 Common French translation module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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