763721006: Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Encephalopathy\Toxic metabolic encephalopathy\Metabolic encephalopathy\Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase
• \Central nervous system finding\Disorder of the central nervous system\Central nervous system complication\Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Toxic metabolic encephalopathy\Metabolic encephalopathy\Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Toxic metabolic encephalopathy\Metabolic encephalopathy\Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase
• \Disorder of head\Encephalopathy\Toxic metabolic encephalopathy\Metabolic encephalopathy\Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Central nervous system complication\Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Toxic metabolic encephalopathy\Metabolic encephalopathy\Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase
• \Disease\Disorder of head\Encephalopathy\Toxic metabolic encephalopathy\Metabolic encephalopathy\Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase
• \Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of sulfur-bearing amino acid metabolism\Hypermethioninaemia\Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase
• \Disease\Metabolic disease\Metabolic encephalopathy\Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase
• \Disease\Congenital disease\Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3643486017	Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3643487014	Hypermethioninemia encephalopathy due to deficiency of adenosine kinase	en	Synonym	Active	Case insensitive	SNOMED CT core
3643488016	Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase	en	Synonym	Active	Case insensitive	SNOMED CT core
3643489012	Hypermethioninemia encephalopathy due to ADK (adenosine kinase) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3643490015	Hypermethioninaemia encephalopathy due to ADK (adenosine kinase) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3643491016	A rare inborn error of metabolism characterised by persistent hypermethioninaemia 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, hypoglycaemia 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. There is evidence the disease is caused by homozygous mutation in the ADK gene on chromosome 10q22.	en	Definition	Active	Case sensitive	SNOMED CT core
3643492011	A rare inborn error of metabolism 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. There is evidence the disease is caused by homozygous mutation in the ADK gene on chromosome 10q22.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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