Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3705552011 | Severe congenital encephalopathy due to methyl-CpG binding protein 2 mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3705553018 | Severe neonatal onset encephalopathy with microcephaly (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3705554012 | Severe neonatal onset encephalopathy with microcephaly | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3705555013 | Severe congenital encephalopathy due to MECP2 mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3705556014 | Severe congenital encephalopathy due to MECP2 (methyl-CpG binding protein 2) mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5287635011 | MECP2-related severe neonatal encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3705557017 | A rare monogenic disease with characteristics of neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual. Caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Severe neonatal onset encephalopathy with microcephaly (disorder) | Is a | Neonatal seizure (finding) | false | Inferred relationship | Some | ||
| Severe neonatal onset encephalopathy with microcephaly (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Severe neonatal onset encephalopathy with microcephaly (disorder) | Is a | Microcephalus | false | Inferred relationship | Some | ||
| Severe neonatal onset encephalopathy with microcephaly (disorder) | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
| Severe neonatal onset encephalopathy with microcephaly (disorder) | Is a | Neonatal encephalopathy | true | Inferred relationship | Some | ||
| Severe neonatal onset encephalopathy with microcephaly (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Severe neonatal onset encephalopathy with microcephaly (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Severe neonatal onset encephalopathy with microcephaly (disorder) | Finding site | Brain tissue structure | false | Inferred relationship | Some | 2 | |
| Severe neonatal onset encephalopathy with microcephaly (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 1 | |
| Severe neonatal onset encephalopathy with microcephaly (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 1 | |
| Severe neonatal onset encephalopathy with microcephaly (disorder) | Occurrence | Neonatal | true | Inferred relationship | Some | 2 | |
| Severe neonatal onset encephalopathy with microcephaly (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Severe neonatal onset encephalopathy with microcephaly (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| Severe neonatal onset encephalopathy with microcephaly (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Severe neonatal onset encephalopathy with microcephaly (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 1 | |
| Severe neonatal onset encephalopathy with microcephaly (disorder) | Interprets | Head circumference | true | Inferred relationship | Some | 1 | |
| Severe neonatal onset encephalopathy with microcephaly (disorder) | Is a | Microcephaly (finding) | true | Inferred relationship | Some | ||
| Severe neonatal onset encephalopathy with microcephaly (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| Severe neonatal onset encephalopathy with microcephaly (disorder) | Is a | Developmental and epileptic encephalopathy | true | Inferred relationship | Some | ||
| Severe neonatal onset encephalopathy with microcephaly (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 2 | |
| Severe neonatal onset encephalopathy with microcephaly (disorder) | Is a | Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR