Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2024. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5415410016 | Intellectual disability, cupped ears syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5415411017 | Snijders Blok-Fisher syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5415412012 | Intellectual disability, cupped ears syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5415413019 | A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5415414013 | A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)