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 |
3447658010 | Short rib polydactyly syndrome type I (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3447659019 | Short rib polydactyly syndrome Saldino Noonan type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3447660012 | Saldino Noonan syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3447661011 | Short rib polydactyly syndrome type 1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3447662016 | Short rib polydactyly syndrome type I | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5403521018 | A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403522013 | A rare ciliopathy with major skeletal involvement characterised by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Short rib polydactyly syndrome type I (disorder) | Is a | Micromelia | true | Inferred relationship | Some | ||
Short rib polydactyly syndrome type I (disorder) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Short rib polydactyly syndrome type I (disorder) | Is a | Congenital anomaly of rib | false | Inferred relationship | Some | ||
Short rib polydactyly syndrome type I (disorder) | Is a | Short rib polydactyly syndrome | true | Inferred relationship | Some | ||
Short rib polydactyly syndrome type I (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Short rib polydactyly syndrome type I (disorder) | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
Short rib polydactyly syndrome type I (disorder) | Is a | Polydactyly (disorder) | false | Inferred relationship | Some | ||
Short rib polydactyly syndrome type I (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Short rib polydactyly syndrome type I (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Short rib polydactyly syndrome type I (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 7 | |
Short rib polydactyly syndrome type I (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Short rib polydactyly syndrome type I (disorder) | Finding site | Bone structure of rib | false | Inferred relationship | Some | 7 | |
Short rib polydactyly syndrome type I (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
Short rib polydactyly syndrome type I (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 6 | |
Short rib polydactyly syndrome type I (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 6 | |
Short rib polydactyly syndrome type I (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 5 | |
Short rib polydactyly syndrome type I (disorder) | Finding site | Entire limb | false | Inferred relationship | Some | 5 | |
Short rib polydactyly syndrome type I (disorder) | Associated morphology | Supernumerary structure | false | Inferred relationship | Some | 8 | |
Short rib polydactyly syndrome type I (disorder) | Finding site | Digit structure | false | Inferred relationship | Some | 8 | |
Short rib polydactyly syndrome type I (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Short rib polydactyly syndrome type I (disorder) | Associated morphology | Supernumerary structure | true | Inferred relationship | Some | 1 | |
Short rib polydactyly syndrome type I (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Short rib polydactyly syndrome type I (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Short rib polydactyly syndrome type I (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Short rib polydactyly syndrome type I (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
Short rib polydactyly syndrome type I (disorder) | Finding site | Digit structure | true | Inferred relationship | Some | 1 | |
Short rib polydactyly syndrome type I (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Short rib polydactyly syndrome type I (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Short rib polydactyly syndrome type I (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Short rib polydactyly syndrome type I (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
Short rib polydactyly syndrome type I (disorder) | Finding site | Entire limb | true | Inferred relationship | Some | 2 | |
Short rib polydactyly syndrome type I (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 2 | |
Short rib polydactyly syndrome type I (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 3 | |
Short rib polydactyly syndrome type I (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
Short rib polydactyly syndrome type I (disorder) | Finding site | Bone structure of rib | false | Inferred relationship | Some | 4 | |
Short rib polydactyly syndrome type I (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 3 | |
Short rib polydactyly syndrome type I (disorder) | Finding site | Bone structure of rib | true | Inferred relationship | Some | 3 | |
Short rib polydactyly syndrome type I (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)