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 |
| 1017911000172110 | syndrome de Johnson | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3318057011 | Johnson syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3318059014 | X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3318060016 | X-linked intellectual disability, macrocephaly, macroorchidism syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 754941000241115 | syndrome de déficience intellectuelle liée à l'X-macrocéphalie-macroorchidie (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 971361000172117 | syndrome de déficience intellectuelle liée à l'X-macrocéphalie-macroorchidie | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3318058018 | This syndrome has characteristics of intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been located to the q12-q21 region of the X chromosome. | 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, macrocephaly, macroorchidism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) | morphologie associée (attribut) | Enlargement (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) | localisation d'une constatation (attribut) | structure de la tête | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) | a pour interprétation (attribut) | au-dessus de l'étendue de référence | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) | est un(e) (attribut) | Congenital macrocephaly (disorder) | true | Inferred relationship | Some | ||
| X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) | interprète (attribut) | Head circumference | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) | est un(e) (attribut) | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) | est un(e) (attribut) | Macrocephaly | false | Inferred relationship | Some | ||
| X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) | est un(e) (attribut) | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) | morphologie associée (attribut) | Congenital enlargement (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) | localisation d'une constatation (attribut) | Entire head | false | Inferred relationship | Some | 1 | |
| X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR