Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4636391017 | Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4636392012 | PMP22-RAI1 contiguous gene duplication syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4636393019 | 17p11.2p12 microduplication syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4636394013 | Yuan Harel Lupski syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4636395014 | Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4636396010 | Trisomy 17p11.2p12 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4636397018 | A rare partial duplication of the long arm of chromosome 17 with characteristics of a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties and failure to thrive, as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy, gait impairment, sensory loss, reduced or absent deep tendon reflexes of the ankles and foot deformities. Facial dysmorphism, cardiac and renal anomalies and syringomyelia may also be observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | Is a | Congenital malformation | true | Inferred relationship | Some | ||
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | Is a | Hereditary motor and sensory neuropathy (disorder) | true | Inferred relationship | Some | ||
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | Is a | 17q partial trisomy syndrome | true | Inferred relationship | Some | ||
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | Finding site | Long arm of chromosome | true | Inferred relationship | Some | 1 | |
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | Finding site | Chromosome pair 17 | true | Inferred relationship | Some | 2 | |
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 2 | |
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | Occurrence | Childhood | true | Inferred relationship | Some | 3 | |
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 3 | |
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR