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 |
| 3314664019 | X-linked intellectual disability Miles Carpenter type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314665018 | X-linked intellectual disability Miles Carpenter type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314667014 | X-linked intellectual disability Miles-Carpenter type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 753411000241112 | déficience intellectuelle liée à l'X type Miles-Carpenter (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 876531000172115 | déficience intellectuelle liée à l'X type Miles-Carpenter | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3314666017 | X-linked mental retardation Miles-Carpenter type has characteristics of severe intellectual deficit, microcephaly, exotropia and low digital arches. It has been described in four male members of one family. Joint hypermobility, distal muscle wasting, hypogonadism and rocker bottom feet were also reported. Low digital arches and exotropia were described in several female members of the family. Transmission is X-linked and the causative gene has been mapped to Xq13-q22. | 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 Miles Carpenter type (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Miles Carpenter type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Miles Carpenter type (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability Miles Carpenter type (disorder) | est un(e) (attribut) | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked intellectual disability Miles Carpenter type (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| X-linked intellectual disability Miles Carpenter type (disorder) | est un(e) (attribut) | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked intellectual disability Miles Carpenter type (disorder) | est un(e) (attribut) | Congenital malformation syndrome (disorder) | true | Inferred relationship | Some | ||
| X-linked intellectual disability Miles Carpenter type (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Miles Carpenter type (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Miles Carpenter type (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