Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 1000411000172115 | syndrome de dysplasie osseuse terminale-défauts de pigmentation | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3425158015 | Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3425159011 | Terminal osseous dysplasia and pigmentary defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 759761000241115 | syndrome de dysplasie osseuse terminale-défauts de pigmentation (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3425160018 | Syndrome with characteristics of malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. It has been described in 18 females, six of whom came from four different generations of the same family. Phenotypic expression is very heterogeneous. In the majority of patients, the bone dysplasia is limited to the hands and feet but shortening and/or bowing of the bones of the arms and legs has been reported in severe cases. The pigmentary lesions and digital fibromatosis appear a few months after birth. There is evidence that the syndrome is caused by mutation in the FLNA gene. The syndrome is transmitted as an in utero male-lethal X-linked dominant trait, explaining the large number of miscarriages reported in the affected families. | 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
FHIR