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 |
| 3685731017 | Purine rich element binding protein A syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3685732012 | PURA-related neurodevelopmental disorder | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3685733019 | PURA (purine rich element binding protein A) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3685734013 | Purine rich element binding protein A syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3685735014 | PURA syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3685736010 | PURA-related severe neonatal hypotonia, seizure, encephalopathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3685737018 | Syndrome with manifestations of intellectual disability and delayed development of speech and motor skills with expressive language skills generally more severely affected. Individuals may be unable to speak, learn to walk later or may never walk. In infancy hypotonia and feeding difficulties may be present along with dysphagia, hypersomnolence, hypothermia and hypoventilation. Recurrent seizures are common. Caused by mutations in the PURA gene, which provides instructions for the protein Pur-alpha. This protein has multiple roles in cells, including gene transcription and replication of DNA. The disease is inherited in an autosomal dominant pattern, however most cases result from de novo mutation. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404733017 | A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404734011 | A rare neurologic disease characterised by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Purine rich element binding protein A syndrome (disorder) | Is a | Seizure disorder | true | Inferred relationship | Some | ||
| Purine rich element binding protein A syndrome (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 1 | |
| Purine rich element binding protein A syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Purine rich element binding protein A syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| Purine rich element binding protein A syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Purine rich element binding protein A syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| Purine rich element binding protein A syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Purine rich element binding protein A syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| Purine rich element binding protein A syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR