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 |
3330759010 | Osteosclerosis, ichthyosis, premature ovarian failure syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3330760017 | Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3330771016 | Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5402831013 | A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402832018 | A rare genetic disease characterised by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Is a | Congenital ichthyosis of skin | true | Inferred relationship | Some | ||
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Is a | Premature ovarian failure | true | Inferred relationship | Some | ||
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Is a | Dysplasia with increased bone density (disorder) | true | Inferred relationship | Some | ||
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Finding site | Ovarian endocrine structure | false | Inferred relationship | Some | ||
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Finding site | Bone structure | false | Inferred relationship | Some | 4 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 5 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Finding site | Skin structure | false | Inferred relationship | Some | 5 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Finding site | Bone structure | true | Inferred relationship | Some | 5 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Finding site | Ovarian endocrine structure | true | Inferred relationship | Some | 1 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Has interpretation | Decreased | true | Inferred relationship | Some | 2 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Interprets | Hormone secretion | true | Inferred relationship | Some | 2 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Finding site | Skin structure | false | Inferred relationship | Some | 3 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 3 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Has interpretation | Abnormal | true | Inferred relationship | Some | 4 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Interprets | Keratinization | true | Inferred relationship | Some | 4 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 5 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Has interpretation | Above reference range | true | Inferred relationship | Some | 6 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Is a | Decline in functional status (finding) | false | Inferred relationship | Some | ||
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Interprets | Bone density scan | true | Inferred relationship | Some | 6 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Finding site | Entire skin | true | Inferred relationship | Some | 3 | |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | Is a | Decreased hormone secretion | false | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)