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

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

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy\Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Central nervous system complication\Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy\Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)

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

\Finding of brain\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy\Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)

\Disorder of head (disorder)\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy\Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Central nervous system complication\Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (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\Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Toxic metabolic encephalopathy (disorder)\Metabolic encephalopathy\Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)
\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of sulphur-bearing amino acid metabolism\Hypermethioninemia\Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)
\Disease\Metabolic disease\Metabolic encephalopathy\Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)
\Disease\Congenital disease (disorder)\Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3643487014 Hypermethioninemia encephalopathy due to deficiency of adenosine kinase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3643488016 Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3643489012 Hypermethioninemia encephalopathy due to ADK (adenosine kinase) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3643490015 Hypermethioninaemia encephalopathy due to ADK (adenosine kinase) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

4171171000052112 hypermetioninemi och encefalopati orsakade av brist på adenokinas 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
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)	Due to	Deficiency of adenosine kinase	true	Inferred relationship	Some	2
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)	Is a	Hypermethioninemia	true	Inferred relationship	Some
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)	Is a	Metabolic encephalopathy	true	Inferred relationship	Some
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	1
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (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
3643486017	Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643487014	Hypermethioninemia encephalopathy due to deficiency of adenosine kinase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643488016	Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643489012	Hypermethioninemia encephalopathy due to ADK (adenosine kinase) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3643490015	Hypermethioninaemia encephalopathy due to ADK (adenosine kinase) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4171171000052112	hypermetioninemi och encefalopati orsakade av brist på adenokinas	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)