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 |
| 3321520016 | Cardiocranial syndrome Pfeiffer type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3321521017 | Cardiocranial syndrome Pfeiffer type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3321522012 | Craniosynostosis with congenital heart disease and intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321523019 | Pfeiffer Singer Zschiesche syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3321524013 | Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 755751000241115 | syndrome cardio-crânien type Pfeiffer (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 908411000172110 | syndrome de Pfeiffer-Singer-Zschiesche | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 973231000172119 | syndrome cardio-crânien type Pfeiffer | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3321525014 | An extremely rare disorder found in less than ten patients worldwide with characteristics of congenital heart defect, sagittal craniosynostosis and severe developmental delay. Genital and renal anomalies, and various dysmorphic features may be present. Joint and palpebral abnormalities may also occur. The occurrence of the syndrome in a brother-sister sibship supports the hypothesis of autosomal recessive inheritance. Autosomal dominant inheritance and submicroscopic deletions have also been proposed as possible causes. | 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