Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5403391014 | Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403392019 | Crisponi syndrome (CS) is a severe disorder characterised by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3438506013 | Crisponi syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3438507016 | Crisponi syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
898041000172114 | syndrome de Crisponi | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3415071001000113 | Crisponi-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Is a | Camptodactyly | true | Inferred relationship | Some | ||
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Is a | Cold-induced sweating syndrome (disorder) | true | Inferred relationship | Some | ||
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Finding site | Autonomic nervous system structure | true | Inferred relationship | Some | 4 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 6 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Finding site | Face structure | false | Inferred relationship | Some | 6 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 5 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Finding site | Finger structure | false | Inferred relationship | Some | 5 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Associated morphology | Flexion deformity | false | Inferred relationship | Some | 7 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Finding site | Musculoskeletal structure of digit of hand | false | Inferred relationship | Some | 7 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 3 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Finding site | Musculoskeletal structure of digit of hand | true | Inferred relationship | Some | 2 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Finding site | Finger structure | true | Inferred relationship | Some | 1 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Associated morphology | Flexion deformity | true | Inferred relationship | Some | 2 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Is a | Congenital anomaly of finger (disorder) | true | Inferred relationship | Some | ||
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Associated morphology | Fixed flexion deformity (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Is a | Flexion deformity of hand | true | Inferred relationship | Some | ||
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Is a | Finding of musculoskeletal structure of digit of hand | true | Inferred relationship | Some | ||
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Finding site | Musculoskeletal system structure of digit (body structure) | true | Inferred relationship | Some | 5 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Associated morphology | Fixed flexion deformity (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. | Is a | Congenital deformity of hand (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)