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 |
| 1013591000241111 | syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 1013601000241116 | syndrome de dislocations articulaires multiples, petite taille, dysmorphie craniofaciale, anomalies cardiaques congénitales | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3643814016 | Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3643815015 | Multiple joint dislocations, short stature, craniofacial dysmorphism, congenital heart defects syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3643816019 | Larsen-like syndrome B3GAT3 type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3643817011 | Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3643818018 | A rare genetic primary bone dysplasia with characteristics of laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 2 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | est un(e) (attribut) | Chronic metabolic disorder | true | Inferred relationship | Some | ||
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | est un(e) (attribut) | cardiopathie chronique | true | Inferred relationship | Some | ||
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | est un(e) (attribut) | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | morphologie associée (attribut) | Dislocation | true | Inferred relationship | Some | 5 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | interprète (attribut) | Range of joint movement | true | Inferred relationship | Some | 4 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | a pour interprétation (attribut) | Decreased | true | Inferred relationship | Some | 4 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | localisation d'une constatation (attribut) | Joint structure of multiple body sites (body structure) | true | Inferred relationship | Some | 5 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | est un(e) (attribut) | Inherited arthrogryposis | true | Inferred relationship | Some | ||
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | localisation d'une constatation (attribut) | Structure of joint region | true | Inferred relationship | Some | 7 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | survenue (attribut) | congénital | true | Inferred relationship | Some | 7 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 7 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 6 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | morphologie associée (attribut) | Contracture (morphologic abnormality) | true | Inferred relationship | Some | 7 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | Due to | Spontaneous event (event) | true | Inferred relationship | Some | 8 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | morphologie associée (attribut) | Damage | false | Inferred relationship | Some | 9 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | est un(e) (attribut) | Injury of face | true | Inferred relationship | Some | ||
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | est un(e) (attribut) | Bone injury | true | Inferred relationship | Some | ||
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | est un(e) (attribut) | Cardiovascular injury | false | Inferred relationship | Some | ||
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | est un(e) (attribut) | Injury of intrathoracic organ | false | Inferred relationship | Some | ||
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | est un(e) (attribut) | Injury of heart | true | Inferred relationship | Some | ||
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | est un(e) (attribut) | maladie cardiaque congénitale | true | Inferred relationship | Some | ||
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | est un(e) (attribut) | maladie métabolique de l'os | true | Inferred relationship | Some | ||
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | est un(e) (attribut) | Disorder of glycoprotein metabolism | true | Inferred relationship | Some | ||
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | est un(e) (attribut) | Multiple dislocations with dysplasia | true | Inferred relationship | Some | ||
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | localisation d'une constatation (attribut) | cœur | false | Inferred relationship | Some | 2 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 2 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | localisation d'une constatation (attribut) | structure osseuse | false | Inferred relationship | Some | 1 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 3 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 3 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | localisation d'une constatation (attribut) | cœur | true | Inferred relationship | Some | 1 | |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR