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

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

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Central nervous system complication\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)

\Disorder of head (disorder)\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Central nervous system complication\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)
\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\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)
\Disease\Metabolic disease\Metabolic encephalopathy\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

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

4215341000052112 encefalopati i barndomen orsakad av tiaminpyrofosfokinasbrist sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)	Occurrence	Childhood	true	Inferred relationship	Some	1
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)	Is a	Metabolic encephalopathy	true	Inferred relationship	Some
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)	Due to	Deficiency of thiamine pyrophosphokinase (disorder)	true	Inferred relationship	Some	2
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	1
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)	Is a	Central nervous system complication	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
4215341000052112	encefalopati i barndomen orsakad av tiaminpyrofosfokinasbrist	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)