Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3722846018 | X-linked intellectual disability, craniofacioskeletal syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3722847010 | X-linked intellectual disability, craniofacioskeletal syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 770951000241113 | syndrome de déficience intellectuelle liée à l'X-syndrome cranio-facio-squelettique (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 928901000172112 | syndrome de déficience intellectuelle liée à l'X-syndrome cranio-facio-squelettique | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3722848017 | A rare hereditary syndromic intellectual disability with characteristics of craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported. | 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, craniofacioskeletal syndrome | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| X-linked intellectual disability, craniofacioskeletal syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability, craniofacioskeletal syndrome | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability, craniofacioskeletal syndrome | est un(e) (attribut) | X-linked hereditary disease | true | Inferred relationship | Some | ||
| X-linked intellectual disability, craniofacioskeletal syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability, craniofacioskeletal syndrome | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
| X-linked intellectual disability, craniofacioskeletal syndrome | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR