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 |
| 3432364018 | Keutel syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3432365017 | Keutel syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3432366016 | Pulmonic stenosis, brachytelephalangism, calcification of cartilage syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 760391000241113 | syndrome de Keutel (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 941041000172117 | syndrome de Keutel | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 952151000172113 | syndrome de sténose pulmonaire, brachytéléphalangie, calcification du cartilage | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3432367013 | Syndrome with characteristics of diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. The abnormal calcification principally involves the cartilage of the ears, nose, larynx and the tracheobronchial tree. Epiphyseal stippling of the long bones and calcification of the spinal column vertebrae have also been reported. The dysmorphism is characterised by an elongated face with maxillary and midface hypoplasia. Other associated features may include hearing loss and recurrent otitis and/or sinusitis, mild intellectual deficit, frequent respiratory infections, nasal speech and, more rarely, seizures and short stature. The syndrome is caused by mutations in the gene encoding the matrix Gla protein (MGP, located at 12p13.1-p12.3). The syndrome is transmitted as an autosomal recessive trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3777436019 | Syndrome with characteristics of diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. The abnormal calcification principally involves the cartilage of the ears, nose, larynx and the tracheobronchial tree. Epiphyseal stippling of the long bones and calcification of the spinal column vertebrae have also been reported. The dysmorphism is characterized by an elongated face with maxillary and midface hypoplasia. Other associated features may include hearing loss and recurrent otitis and/or sinusitis, mild intellectual deficit, frequent respiratory infections, nasal speech and, more rarely, seizures and short stature. The syndrome is caused by mutations in the gene encoding the matrix Gla protein (MGP, located at 12p13.1-p12.3). The syndrome is transmitted as an autosomal recessive trait. | 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)
Description inactivation indicator reference set
FHIR