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 |
| 3314987012 | Carpenter Waziri syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314988019 | Carpenter Waziri syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6791001000146114 | syndroom van Carpenter-Waziri | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 10662771000146114 | Carpenter-Waziri-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 10662781000146111 | Carpenter-Waziri-syndroom (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3314989010 | An X-linked mental retardation syndrome belonging to the group of conditions with manifestations of intellectual deficit with hypotonic facies. Prevalence is unknown but the syndrome was originally described in 1988 in six males from three generations of one family. In the affected males the syndrome has characteristics of coarse facial appearance (prominent lips, bushy eyebrows, widely-spaced teeth, and a broad and depressed nasal bridge with a wide nasal tip), brachydactyly with widening of the distal phalanges, short stature and moderate intellectual deficit. The syndrome is caused by mutations in the ATRX gene (Xq13.3).The syndrome is transmitted as an X-linked recessive trait with skewed X-inactivation in carrier females. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR