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 |
| 3317993013 | X-linked intellectual disability Cabezas type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3317994019 | X-linked intellectual disability Cabezas type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3317995018 | Cabezas syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402215013 | An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability (ID) with severe speech impairment, and short stature. Variable additional clinical features have been associated, including behavioral disturbances, gait abnormalities, tremor, seizures, hypogonadism, truncal obesity, unspecific facial dysmorphism, and small hands and feet. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402216014 | An X-linked syndromic intellectual disability characterised by developmental delay, intellectual disability (ID) with severe speech impairment, and short stature. Variable additional clinical features have been associated, including behavioural disturbances, gait abnormalities, tremor, seizures, hypogonadism, truncal obesity, unspecific facial dysmorphism, and small hands and feet. | 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 Cabezas type (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| X-linked intellectual disability Cabezas type (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
| X-linked intellectual disability Cabezas type (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked intellectual disability Cabezas type (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Cabezas type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Cabezas type (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| X-linked intellectual disability Cabezas type (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Cabezas type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Cabezas type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability Cabezas type (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked intellectual disability Cabezas type (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability Cabezas type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability Cabezas type (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| X-linked intellectual disability Cabezas 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)
FHIR