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 |
| 3314668016 | X-linked intellectual disability Cilliers type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314669012 | X-linked intellectual disability Cilliers type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314670013 | X-linked intellectual disability, microcephaly, testicular failure syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 7868991000146110 | X-gebonden syndroom van verstandelijke handicap, microcefalie en testiculair falen | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12689461000146113 | X-gebonden verstandelijke beperking Cilliers-type (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12740181000146117 | X-gebonden mentale retardatie Cilliers-type | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12740191000146115 | X-gebonden verstandelijke beperking Cilliers-type | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3314671012 | X-linked intellectual deficit Cilliers type has characteristics of mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears). It has been described in four males from one family. The syndrome is mapped to the Xq25-q26 region of the X-chromosome. The syndrome is transmitted in an X-linked recessive manner. | 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 Cilliers type (disorder) | Is a | mentale retardatie | false | Inferred relationship | Some | ||
| X-linked intellectual disability Cilliers type (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked intellectual disability Cilliers type (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| X-linked intellectual disability Cilliers type (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability Cilliers type (disorder) | Is a | Primary hypogonadism (disorder) | true | Inferred relationship | Some | ||
| X-linked intellectual disability Cilliers type (disorder) | Finding site | Gonadal endocrine structure | false | Inferred relationship | Some | ||
| X-linked intellectual disability Cilliers type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Cilliers type (disorder) | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Cilliers type (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| X-linked intellectual disability Cilliers type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability Cilliers type (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability Cilliers type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability Cilliers type (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 3 | |
| X-linked intellectual disability Cilliers type (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked intellectual disability Cilliers type (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
| X-linked intellectual disability Cilliers type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| X-linked intellectual disability Cilliers type (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
| X-linked intellectual disability Cilliers type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| X-linked intellectual disability Cilliers type (disorder) | Is a | Congenital hypergonadotropic hypogonadism (disorder) | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR