Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3759348014 | Reunion Island Larsen-like syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3759349018 | Reunion Island Larsen-like syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3759350018 | Multiple joint dislocations, short stature, hyperlaxity, craniofacial dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 8134401000146113 | Larsen-achtig syndroom van Réunion | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8447081000146118 | syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8447091000146116 | syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3759351019 | A rare genetic congenital disorder of glycosylation with characteristics of severe pre and post-natal short stature, joint hyperlaxity with multiple dislocations (elbows, fingers, hips, knees), and facial dysmorphism (round flat face, high forehead, hypertelorism, prominent bulging eyes with under-eye shadows, hypoplastic midface, microstomia, protruding lips). Other associated features may include cutaneous hyperextensibility, learning difficulties and ocular abnormalities. Advanced carpal ossification, widened metaphyses, and, occasionally, radioulnar synostosis, scoliosis and a Swedish key appearance of the proximal femora is observed on imaging. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Is a | Multiple malformation syndrome with facial defects as major feature | false | Inferred relationship | Some | ||
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Is a | Multiple dislocations with dysplasia (disorder) | false | Inferred relationship | Some | ||
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Is a | Chronic metabolic disorder | false | Inferred relationship | Some | ||
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Is a | Disorder of glycoprotein metabolism | false | Inferred relationship | Some | ||
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Is a | Congenital anomaly of joint | false | Inferred relationship | Some | ||
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Is a | Short stature disorder | false | Inferred relationship | Some | ||
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 3 | |
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Finding site | Skeletal system structure | false | Inferred relationship | Some | 1 | |
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Finding site | Joint structure of multiple body sites (body structure) | false | Inferred relationship | Some | 3 | |
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Finding site | Face structure | false | Inferred relationship | Some | 2 | |
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Clinical course | Progressive (qualifier value) | false | Inferred relationship | Some | 4 | |
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Associated morphology | Dysplasia | false | Inferred relationship | Some | 1 | |
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Associated morphology | Dislocation | false | Inferred relationship | Some | 3 | |
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Due to | Spontaneous event (event) | false | Inferred relationship | Some | 5 | |
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Is a | Congenital dislocation of joint (disorder) | false | Inferred relationship | Some | ||
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Is a | Developmental hereditary disorder | false | Inferred relationship | Some | ||
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Interprets | Height / growth measure | false | Inferred relationship | Some | 6 | |
| syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie | Associated morphology | Damage | false | Inferred relationship | Some | 7 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR