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 |
| 3655764012 | Larsen-like osseous dysplasia, short stature syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3655765013 | Larsen-like osseous dysplasia, short stature syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6911911000146116 | syndroom van Larsen-achtige botdysplasie en kleine gestalte | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6911921000146114 | syndroom van Larsen-achtige botdysplasie en kleine gestalte (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6911931000146111 | syndroom van Larsen-achtige osteodysplasie en kleine lengte | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3655679012 | A rare primary bone dysplasia with characteristics of a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | Is a | Multiple dislocations with dysplasia (disorder) | true | Inferred relationship | Some | ||
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | Finding site | Joint structure of multiple body sites (body structure) | true | Inferred relationship | Some | 2 | |
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | Associated morphology | Dislocation | true | Inferred relationship | Some | 2 | |
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | Due to | Spontaneous event (event) | true | Inferred relationship | Some | 4 | |
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 5 | |
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | Associated morphology | Damage | false | Inferred relationship | Some | 6 | |
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | Is a | Bone injury | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR