Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3304956016 | Deafness with cataract and skeletal anomaly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3304957013 | Deafness with cataract and skeletal anomaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3304958015 | Nathalie syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3304959011 | Nathalie syndrome has characteristics of deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
10600731000172117 | syndrome de surdité, cataracte et anomalie squelettique | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
10600741000172112 | syndrome de Nathalie | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4516351000172117 | syndroom van doofheid, cataract en skeletafwijkingen | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4516361000172115 | syndroom van Nathalie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Deafness with cataract and skeletal anomaly syndrome (disorder) | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
Deafness with cataract and skeletal anomaly syndrome (disorder) | Is a | Congenital cataract | true | Inferred relationship | Some | ||
Deafness with cataract and skeletal anomaly syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Deafness with cataract and skeletal anomaly syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
Deafness with cataract and skeletal anomaly syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Deafness with cataract and skeletal anomaly syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Deafness with cataract and skeletal anomaly syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Deafness with cataract and skeletal anomaly syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Deafness with cataract and skeletal anomaly syndrome (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | 3 | |
Deafness with cataract and skeletal anomaly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Deafness with cataract and skeletal anomaly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Deafness with cataract and skeletal anomaly syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
Deafness with cataract and skeletal anomaly syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 3 | |
Deafness with cataract and skeletal anomaly syndrome (disorder) | Associated morphology | Congenital cataract | false | Inferred relationship | Some | 4 | |
Deafness with cataract and skeletal anomaly syndrome (disorder) | Finding site | Lens clear | false | Inferred relationship | Some | 4 | |
Deafness with cataract and skeletal anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Deafness with cataract and skeletal anomaly syndrome (disorder) | Finding site | Lens clear | true | Inferred relationship | Some | 1 | |
Deafness with cataract and skeletal anomaly syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 2 | |
Deafness with cataract and skeletal anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Deafness with cataract and skeletal anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Deafness with cataract and skeletal anomaly syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Deafness with cataract and skeletal anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Deafness with cataract and skeletal anomaly syndrome (disorder) | Associated morphology | Cataract | false | Inferred relationship | Some | 1 | |
Deafness with cataract and skeletal anomaly syndrome (disorder) | Associated morphology | Opacity | true | Inferred relationship | Some | 1 | |
Deafness with cataract and skeletal anomaly syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 3 | |
Deafness with cataract and skeletal anomaly syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
Deafness with cataract and skeletal anomaly syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
Deafness with cataract and skeletal anomaly syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Deafness with cataract and skeletal anomaly syndrome (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
Deafness with cataract and skeletal anomaly syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set