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 |
| 3315205019 | Syndromic X-linked intellectual disability type 7 (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3315207010 | Syndromic X-linked intellectual disability type 7 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3315208017 | X-linked intellectual disability Ahmad type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3315209013 | This syndrome has characteristics of X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers. It has been described in ten males from a large Pakistani family. The causative gene has been located to Xp11.3-Xq23. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401978013 | A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401979017 | A rare, X-linked syndromic intellectual disability disorder characterised by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localised to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Syndromic X-linked intellectual disability type 7 (disorder) | Is a | Hypogonadism | true | Inferred relationship | Some | ||
| Syndromic X-linked intellectual disability type 7 (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
| Syndromic X-linked intellectual disability type 7 (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Syndromic X-linked intellectual disability type 7 (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Syndromic X-linked intellectual disability type 7 (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| Syndromic X-linked intellectual disability type 7 (disorder) | Is a | Obesity (disorder) | false | Inferred relationship | Some | ||
| Syndromic X-linked intellectual disability type 7 (disorder) | Finding site | Gonadal endocrine structure | false | Inferred relationship | Some | ||
| Syndromic X-linked intellectual disability type 7 (disorder) | Has definitional manifestation | Obese (finding) | false | Inferred relationship | Some | ||
| Syndromic X-linked intellectual disability type 7 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Syndromic X-linked intellectual disability type 7 (disorder) | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 1 | |
| Syndromic X-linked intellectual disability type 7 (disorder) | Is a | Intellectual disability | false | Inferred relationship | Some | ||
| Syndromic X-linked intellectual disability type 7 (disorder) | Interprets | Body weight measure | true | Inferred relationship | Some | 3 | |
| Syndromic X-linked intellectual disability type 7 (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Syndromic X-linked intellectual disability type 7 (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 3 | |
| Syndromic X-linked intellectual disability type 7 (disorder) | Is a | Congenital disease (disorder) | true | Inferred relationship | Some | ||
| Syndromic X-linked intellectual disability type 7 (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Syndromic X-linked intellectual disability type 7 (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| Syndromic X-linked intellectual disability type 7 (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
| Syndromic X-linked intellectual disability type 7 (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Syndromic X-linked intellectual disability type 7 (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
| Syndromic X-linked intellectual disability type 7 (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Syndromic X-linked intellectual disability type 7 (disorder) | Is a | Genetic obesity disorder (disorder) | true | Inferred relationship | Some | ||
| Syndromic X-linked intellectual disability type 7 (disorder) | Is a | Genetic intellectual disability | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR