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 |
| 3314339013 | X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314340010 | X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 753271000241119 | syndrome de déficience intellectuelle récessive liée à l'X-macrocéphalie-dysfonction ciliaire (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 907621000172118 | syndrome de déficience intellectuelle récessive liée à l'X-macrocéphalie-dysfonction ciliaire | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3314341014 | This syndrome combining intellectual deficit, ciliary dysfunction and macrocephalus has been described in several males from one large family. Ciliary dysfunction leads to recurrent pulmonary infections and death in most cases. This syndrome is a recessive X-liked mental retardation and has been associated with mutations in the OFD1 gene, known to be involved in oral-facial-digital syndrome. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) | morphologie associée (attribut) | Enlargement (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) | localisation d'une constatation (attribut) | structure de la tête | true | Inferred relationship | Some | 1 | |
| X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) | a pour interprétation (attribut) | au-dessus de l'étendue de référence | true | Inferred relationship | Some | 2 | |
| X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) | est un(e) (attribut) | Congenital macrocephaly (disorder) | true | Inferred relationship | Some | ||
| X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) | interprète (attribut) | Head circumference | true | Inferred relationship | Some | 2 | |
| X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) | est un(e) (attribut) | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) | est un(e) (attribut) | Macrocephaly | false | Inferred relationship | Some | ||
| X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) | est un(e) (attribut) | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) | morphologie associée (attribut) | Congenital enlargement (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) | localisation d'une constatation (attribut) | Entire head | false | Inferred relationship | Some | 1 | |
| X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction 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