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 |
3323624014 | Goldberg Shprintzen megacolon syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3323626011 | Goldberg Shprintzen megacolon syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3323627019 | Megacolon microcephaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
751601000241114 | syndrome de Goldberg-Shprintzen avec mégacôlon (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
873811000172115 | syndrome de Goldberg-Shprintzen avec mégacôlon | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
980721000172111 | GOSHS - Goldberg-Shprintzen syndrome | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3323628012 | A multiple malformation syndrome with characteristics of Hirschprung megacolon and microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability. It has been described in about 10 patients, boys and girls. Some of the reported cases also had iris coloboma, hypotonia, and ptosis. Inherited as an autosomal recessive trait and was found to be caused by mutations in KIAA1279 on chromosome 10q21.3-q22.1. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets