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 |
3330761018 | This syndrome has characteristics of sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals. It has been described in three adult sisters presenting with swelling of the limbs 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 | kongenit dysplasi | 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 | dysgenese | 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 |
This concept is not in any reference sets