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 |
| 767411000241112 | syndrome de dysplasie osseuse Larsen-like-nanisme (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 889511000172113 | syndrome de dysplasie osseuse Larsen-like-nanisme | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 981781000172115 | syndrome de nanisme, laxité ligamentaire, retard de croissance | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation 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) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | localisation d'une constatation (attribut) | Joint structure of multiple body sites (body structure) | true | Inferred relationship | Some | 2 | |
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | morphologie associée (attribut) | Dislocation | true | Inferred relationship | Some | 2 | |
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | évolution clinique (attribut) | progressif | 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) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 5 | |
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | morphologie associée (attribut) | Damage | false | Inferred relationship | Some | 6 | |
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | est un(e) (attribut) | Bone injury | true | Inferred relationship | Some | ||
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some | ||
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | est un(e) (attribut) | Multiple dislocations with dysplasia | true | Inferred relationship | Some | ||
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Larsen-like osseous dysplasia, short stature syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR