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 |
3314681011 | X-linked intellectual disability Armfield type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3314682016 | X-linked intellectual disability Armfield type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3314684015 | Armfield syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401923019 | X-linked intellectual disability, Armfield type is characterized by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401924013 | X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
X-linked intellectual disability Armfield type (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
X-linked intellectual disability Armfield type (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
X-linked intellectual disability Armfield type (disorder) | Is a | Congenital malformation syndrome (disorder) | true | Inferred relationship | Some | ||
X-linked intellectual disability Armfield type (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 1 | |
X-linked intellectual disability Armfield type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability Armfield type (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
X-linked intellectual disability Armfield type (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability Armfield type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability Armfield type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
X-linked intellectual disability Armfield type (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
X-linked intellectual disability Armfield type (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
X-linked intellectual disability Armfield type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
X-linked intellectual disability Armfield type (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
X-linked intellectual disability Armfield type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)