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 |
| 5404163015 | Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404164014 | Hypermethioninaemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR