Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3702084015 | Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3702085019 | Lundberg syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5404874010 | Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5404875011 | Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterised by 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) | Finding site | Ovarian endocrine structure | true | Inferred relationship | Some | 2 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) | Is a | Micromelia | true | Inferred relationship | Some | ||
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) | Finding site | Peripheral nerve structure | true | Inferred relationship | Some | 3 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) | Interprets | Hormone secretion | true | Inferred relationship | Some | 4 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) | Is a | Premature ovarian failure | true | Inferred relationship | Some | ||
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) | Is a | Polyneuropathy | true | Inferred relationship | Some | ||
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 4 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 1 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) | Finding site | Entire limb | true | Inferred relationship | Some | 1 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | 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)