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

SNOMED CT Concept\Clinical finding\...

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

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

\Finding of brain\Encephalopathy\Toxic metabolic encephalopathy\Metabolic encephalopathy\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

\Disorder of head\Encephalopathy\Toxic metabolic encephalopathy\Metabolic encephalopathy\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\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\Hereditary disorder of nervous system\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Central nervous system complication\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Toxic metabolic encephalopathy\Metabolic encephalopathy\Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
\Disease\Disorder of head\Encephalopathy\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, Primitive. 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 Case insensitive SNOMED CT core

3725650018 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency en Synonym Active Case insensitive SNOMED CT core

3725651019 Childhood encephalopathy due to thiamin pyrophosphokinase deficiency en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3725649018	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3725650018	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3725651019	Childhood encephalopathy due to thiamin pyrophosphokinase deficiency	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core