Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3702083014 | Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3702084015 | Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3702085019 | Lundberg syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3702086018 | A rare genetic syndromic intellectual disability with characteristics of intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 5 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 6 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | Finding site | Ovarian endocrine structure | true | Inferred relationship | Some | 2 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | Is a | Micromelia | true | Inferred relationship | Some | ||
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | Finding site | Peripheral nerve structure | true | Inferred relationship | Some | 3 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | Interprets | Hormone secretion | true | Inferred relationship | Some | 4 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | Is a | Premature ovarian failure | true | Inferred relationship | Some | ||
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | Is a | Polyneuropathy | true | Inferred relationship | Some | ||
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | Has interpretation | Decreased | true | Inferred relationship | Some | 4 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | Associated morphology | Congenital smallness | true | Inferred relationship | Some | 1 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | Finding site | Entire limb | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set