Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5298234017 | Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5298235016 | Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5298236015 | NRXN1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5298237012 | NRXN1(neurexin 1) related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5298240012 | A rare genetic neurodevelopmental disorder characterised by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behaviour and stereotypic movements are common. The disorder is caused by homozygous or compound heterozygous intragenic deletions or truncating variants in the NRXN1 gene (2p16.3). NRXN1 belongs to the evolutionarily conserved family of neurexins, presynaptic transmembrane proteins and has an important role in synaptic function. Inheritance is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5298241011 | A rare genetic neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common. The disorder is caused by homozygous or compound heterozygous intragenic deletions or truncating variants in the NRXN1 gene (2p16.3). NRXN1 belongs to the evolutionarily conserved family of neurexins, presynaptic transmembrane proteins and has an important role in synaptic function. Inheritance is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) | Is a | Disorder of sleep-wake cycle | true | Inferred relationship | Some | ||
| Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) | Is a | Severe intellectual disability (disorder) | true | Inferred relationship | Some | ||
| Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 1 | |
| Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 1 | |
| Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 2 | |
| Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR