Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3321506011 | A rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. To date only eight cases have been reported in the literature. Dysmorphic features include flat face, epicanthic folds, telecanthus, small downturned mouth, small ears with attached lobule and abnormal dental eruption and occlusion. Some patients had psychomotor development delayed. The reported cases suggest the condition is hereditary and is transmitted as an autosomal recessive trait. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402426017 | Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3321500017 | Camptodactyly syndrome Guadalajara type 1 (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3321501018 | Camptodactyly syndrome Guadalajara type 1 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Finding site | Face structure | false | Inferred relationship | Some | 6 | |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Is a | Camptodactyly | true | Inferred relationship | Some | ||
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Is a | Congenital anomaly of musculoskeletal system | false | Inferred relationship | Some | ||
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Is a | Congenital abnormal shape of digit | false | Inferred relationship | Some | ||
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Is a | Congenital deformity | false | Inferred relationship | Some | ||
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Associated morphology | dysgenese | false | Inferred relationship | Some | 6 | |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Associated morphology | dysgenese | false | Inferred relationship | Some | 4 | |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Associated morphology | kongenit fleksionsdeformitet | false | Inferred relationship | Some | 5 | |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Finding site | Musculoskeletal structure of digit of hand | false | Inferred relationship | Some | 5 | |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Finding site | Finger structure | false | Inferred relationship | Some | 4 | |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 3 | |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Finding site | Musculoskeletal structure of digit of hand | true | Inferred relationship | Some | 1 | |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Finding site | Finger structure | true | Inferred relationship | Some | 3 | |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Associated morphology | Flexion deformity | false | Inferred relationship | Some | 1 | |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Is a | Congenital anomaly of finger | true | Inferred relationship | Some | ||
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Associated morphology | Fixed flexion deformity (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Is a | Flexion deformity of hand | true | Inferred relationship | Some | ||
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Is a | Finding of musculoskeletal structure of digit of hand | true | Inferred relationship | Some | ||
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. | 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)
Description inactivation indicator reference set