Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3324667013 | Holmes Gang syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3324668015 | Holmes Gang syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3324670012 | Holmes Gang syndrome is an X-linked mental retardation syndrome that was first described in 1984 in three males from two generations of the same family. The syndrome has characteristics of microcephaly, a large anterior fontanelle, characteristic facies (short nose, anteverted nares, epicanthal folds), club-foot deformity and delayed psychomotor development. One of the affected males also had renal hypoplasia/dysplasia. All three patients died during infancy. The syndrome is caused by mutations in the ATRX gene (Xq13.3). Inheritance is X-linked recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR