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 |
| 766431000241118 | encéphalopathie associée à une hyperméthioninémie par déficit en adénosine kinase (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 872861000172112 | encéphalopathie associée à une hyperméthioninémie par déficit en adénosine kinase | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 986211000172111 | encéphalopathie associée à une hyperméthioninémie par déficit en ADK | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder) | est un(e) (attribut) | complication liée au système nerveux central | true | Inferred relationship | Some | ||
| 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) | est un(e) (attribut) | Hypermethioninaemia | true | Inferred relationship | Some | ||
| Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder) | est un(e) (attribut) | encéphalopathie métabolique | true | Inferred relationship | Some | ||
| Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder) | est un(e) (attribut) | Congenital disease | true | Inferred relationship | Some | ||
| Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR