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 |
| 3310201013 | X-linked intellectual disability Atkin type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3310203011 | X-linked intellectual disability Atkin type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3312823014 | Atkin Flaitz syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401776019 | A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401777011 | A rare X-linked syndromic intellectual disability characterised by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localised microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers. | 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 Atkin type (disorder) | Is a | Macrocephaly | false | Inferred relationship | Some | ||
| X-linked intellectual disability Atkin type (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
| X-linked intellectual disability Atkin type (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked intellectual disability Atkin type (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability Atkin type (disorder) | Associated morphology | Congenital enlargement | false | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Atkin type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Atkin type (disorder) | Finding site | Entire head | false | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Atkin type (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| X-linked intellectual disability Atkin type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Atkin type (disorder) | Associated morphology | Enlargement (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Atkin type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability Atkin type (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability Atkin type (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Atkin type (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 3 | |
| X-linked intellectual disability Atkin type (disorder) | Is a | Congenital macrocephaly (disorder) | true | Inferred relationship | Some | ||
| X-linked intellectual disability Atkin type (disorder) | Interprets | Head circumference | true | Inferred relationship | Some | 3 | |
| X-linked intellectual disability Atkin type (disorder) | Is a | X-linked dominant hereditary disease (disorder) | true | Inferred relationship | Some | ||
| X-linked intellectual disability Atkin type (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
| X-linked intellectual disability Atkin type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| X-linked intellectual disability Atkin type (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
| X-linked intellectual disability Atkin type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR