Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3434361013 | A hereditary neurological disorder with characteristics of excessive startle responses. The disease manifests shortly after birth with violent jerking to noise and touch, and massive and sustained stiffening of the trunk and limbs, clenching fists, and attacks of a high frequency trembling. Motor milestones are often mildly delayed, but intellectual development is usually normal. Mutations in the GLRA1 gene (5q32) are found in about 30% of patients. These mutations are transmitted as an autosomal dominant or recessive trait. The GLRA1 gene encodes the alpha1 subunit of the juvenile neuronal receptor for the inhibitory neurotransmitter, glycine. Mutations of this subunit cause a variety of dysfunctions of the neuronal chloride (Cl-) channel. Mutations in the GLRB, GPHN and SLC6A5 genes (4q31.3, 14q24 and 11p15.2-p15.1) have also been observed. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403314017 | Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403315016 | Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3434354014 | Hereditary hyperekplexia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3434355010 | Hereditary hyperekplexia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3434356011 | Congenital stiff man syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3434357019 | Familial startle disease | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3434358012 | Hereditary hyperexplexia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3434359016 | Kok disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3434360014 | Stiff baby syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. | Is a | Inborn error of metabolism | false | Inferred relationship | Some | ||
| Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. | Is a | Myoclonic disorder | true | Inferred relationship | Some | ||
| Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. | Finding site | Skeletal and/or smooth muscle structure (body structure) | true | Inferred relationship | Some | 2 | |
| Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. | Interprets | Reflex | true | Inferred relationship | Some | 3 | |
| Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. | Is a | Disorder of skeletal AND/OR smooth muscle (disorder) | true | Inferred relationship | Some | ||
| Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. | Has interpretation | Abnormal | true | Inferred relationship | Some | 3 | |
| Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. | Is a | Hyperexplexia | true | Inferred relationship | Some | ||
| Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. | Interprets | Determination of a value, conclusion, or inference by evaluating evidence | false | Inferred relationship | Some | 1 | |
| Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. | Interprets | Movement | false | Inferred relationship | Some | 5 | |
| Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. | Interprets | Movement | true | Inferred relationship | Some | 4 | |
| Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. | Is a | Inherited metabolic disorder of nervous system | 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