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 |
3321507019 | Camptodactyly syndrome Guadalajara type 2 (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3321508012 | Camptodactyly syndrome Guadalajara type 2 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5402427014 | Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402428016 | Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterised by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Camptodactyly syndrome Guadalajara type 2 (disorder) | Is a | Camptodactyly | false | Inferred relationship | Some | ||
Camptodactyly syndrome Guadalajara type 2 (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Camptodactyly syndrome Guadalajara type 2 (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Camptodactyly syndrome Guadalajara type 2 (disorder) | Is a | Congenital abnormal shape of digit | false | Inferred relationship | Some | ||
Camptodactyly syndrome Guadalajara type 2 (disorder) | Is a | Skeletal dysplasia | true | Inferred relationship | Some | ||
Camptodactyly syndrome Guadalajara type 2 (disorder) | Is a | Congenital deformity | false | Inferred relationship | Some | ||
Camptodactyly syndrome Guadalajara type 2 (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Camptodactyly syndrome Guadalajara type 2 (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Camptodactyly syndrome Guadalajara type 2 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Camptodactyly syndrome Guadalajara type 2 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Camptodactyly syndrome Guadalajara type 2 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Camptodactyly syndrome Guadalajara type 2 (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
Camptodactyly syndrome Guadalajara type 2 (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 4 | |
Camptodactyly syndrome Guadalajara type 2 (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 5 | |
Camptodactyly syndrome Guadalajara type 2 (disorder) | Finding site | Finger structure | false | Inferred relationship | Some | 5 | |
Camptodactyly syndrome Guadalajara type 2 (disorder) | Associated morphology | Congenital flexion deformity | false | Inferred relationship | Some | 6 | |
Camptodactyly syndrome Guadalajara type 2 (disorder) | Finding site | Musculoskeletal structure of digit of hand | false | Inferred relationship | Some | 6 | |
Camptodactyly syndrome Guadalajara type 2 (disorder) | Finding site | Musculoskeletal structure of digit of hand | false | Inferred relationship | Some | 1 | |
Camptodactyly syndrome Guadalajara type 2 (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 2 | |
Camptodactyly syndrome Guadalajara type 2 (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
Camptodactyly syndrome Guadalajara type 2 (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Camptodactyly syndrome Guadalajara type 2 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Camptodactyly syndrome Guadalajara type 2 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Camptodactyly syndrome Guadalajara type 2 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Camptodactyly syndrome Guadalajara type 2 (disorder) | Finding site | Finger structure | false | Inferred relationship | Some | 3 | |
Camptodactyly syndrome Guadalajara type 2 (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Camptodactyly syndrome Guadalajara type 2 (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 3 | |
Camptodactyly syndrome Guadalajara type 2 (disorder) | Associated morphology | Flexion deformity | false | Inferred relationship | Some | 1 | |
Camptodactyly syndrome Guadalajara type 2 (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Camptodactyly syndrome Guadalajara type 2 (disorder) | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
Camptodactyly syndrome Guadalajara type 2 (disorder) | Is a | Congenital anomaly of finger | false | Inferred relationship | Some | ||
Camptodactyly syndrome Guadalajara type 2 (disorder) | Associated morphology | Fixed flexion deformity (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Camptodactyly syndrome Guadalajara type 2 (disorder) | Is a | Flexion deformity of hand | false | Inferred relationship | Some | ||
Camptodactyly syndrome Guadalajara type 2 (disorder) | Is a | Finding of musculoskeletal structure of digit of hand | false | Inferred relationship | Some | ||
Camptodactyly syndrome Guadalajara type 2 (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Camptodactyly syndrome Guadalajara type 2 (disorder) | Is a | Camptodactyly of finger (disorder) | true | Inferred relationship | Some | ||
Camptodactyly syndrome Guadalajara type 2 (disorder) | Finding site | Musculoskeletal structure of finger | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)