Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5045199019 | QRICH1-related intellectual disability, chondrodysplasia syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5045200016 | Ververi Brady syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5045201017 | Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5045202012 | Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5045203019 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with the association of developmental delay and mild chondrodysplasia with short stature and abnormal growth plate morphology. Dysmorphic facial features are variable and may include hypertelorism, upslanting palpebral fissures, broad nose with broad nasal tip and low-set cup-shaped ears, among others. Autism spectrum disorder and neurologic abnormalities have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| QRICH1-related intellectual disability, chondrodysplasia syndrome | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| QRICH1-related intellectual disability, chondrodysplasia syndrome | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| QRICH1-related intellectual disability, chondrodysplasia syndrome | est un(e) (attribut) | Chondrodysplasia | true | Inferred relationship | Some | ||
| QRICH1-related intellectual disability, chondrodysplasia syndrome | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some | ||
| QRICH1-related intellectual disability, chondrodysplasia syndrome | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| QRICH1-related intellectual disability, chondrodysplasia syndrome | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| QRICH1-related intellectual disability, chondrodysplasia syndrome | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| QRICH1-related intellectual disability, chondrodysplasia syndrome | interprète (attribut) | taille corporelle (entité observable) | true | Inferred relationship | Some | 3 | |
| QRICH1-related intellectual disability, chondrodysplasia syndrome | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 3 | |
| QRICH1-related intellectual disability, chondrodysplasia syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| QRICH1-related intellectual disability, chondrodysplasia syndrome | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 1 | |
| QRICH1-related intellectual disability, chondrodysplasia syndrome | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
| QRICH1-related intellectual disability, chondrodysplasia syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| QRICH1-related intellectual disability, chondrodysplasia syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| QRICH1-related intellectual disability, chondrodysplasia syndrome | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 2 | |
| QRICH1-related intellectual disability, chondrodysplasia syndrome | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
| QRICH1-related intellectual disability, chondrodysplasia syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR