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 |
3314661010 | X-linked intellectual disability Pai type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3314662015 | X-linked intellectual disability Pai type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401915016 | A rare X-linked syndromic intellectual disability characterized by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401916015 | A rare X-linked syndromic intellectual disability characterised by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females. | 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 Pai type (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
X-linked intellectual disability Pai type (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
X-linked intellectual disability Pai type (disorder) | Is a | Congenital malformation syndrome (disorder) | true | Inferred relationship | Some | ||
X-linked intellectual disability Pai type (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 1 | |
X-linked intellectual disability Pai type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability Pai type (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
X-linked intellectual disability Pai type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability Pai type (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability Pai type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
X-linked intellectual disability Pai type (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
X-linked intellectual disability Pai type (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
X-linked intellectual disability Pai type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
X-linked intellectual disability Pai type (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
X-linked intellectual disability Pai 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)