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 |
| 770501000241118 | encéphalopathie néonatale sévère avec microcéphalie (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 873631000172112 | encéphalopathie néonatale sévère avec microcéphalie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 912751000172118 | encéphalopathie congénitale sévère due à une mutation du gène MECP2 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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) | survenue (attribut) | congénital | false | Inferred relationship | Some | 1 | |
| Severe neonatal onset encephalopathy with microcephaly (disorder) | localisation d'une constatation (attribut) | structure du tissu encéphalique | true | Inferred relationship | Some | 2 | |
| Severe neonatal onset encephalopathy with microcephaly (disorder) | morphologie associée (attribut) | Congenital smallness | false | Inferred relationship | Some | 1 | |
| Severe neonatal onset encephalopathy with microcephaly (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 1 | |
| Severe neonatal onset encephalopathy with microcephaly (disorder) | survenue (attribut) | néonatal | 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) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Severe neonatal onset encephalopathy with microcephaly (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 1 | |
| Severe neonatal onset encephalopathy with microcephaly (disorder) | interprète (attribut) | Head circumference | true | Inferred relationship | Some | 1 | |
| Severe neonatal onset encephalopathy with microcephaly (disorder) | est un(e) (attribut) | Microcephaly (finding) | true | Inferred relationship | Some | ||
| Severe neonatal onset encephalopathy with microcephaly (disorder) | est un(e) (attribut) | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| Severe neonatal onset encephalopathy with microcephaly (disorder) | est un(e) (attribut) | Convulsions in the newborn | true | Inferred relationship | Some | ||
| Severe neonatal onset encephalopathy with microcephaly (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Severe neonatal onset encephalopathy with microcephaly (disorder) | est un(e) (attribut) | microcéphalie | false | Inferred relationship | Some | ||
| Severe neonatal onset encephalopathy with microcephaly (disorder) | est un(e) (attribut) | anomalie congénitale de l'encéphale | false | Inferred relationship | Some | ||
| Severe neonatal onset encephalopathy with microcephaly (disorder) | est un(e) (attribut) | Neonatal encephalopathy | true | Inferred relationship | Some | ||
| Severe neonatal onset encephalopathy with microcephaly (disorder) | est un(e) (attribut) | X-linked hereditary disease | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR