Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3302963017 | Naxos disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3302964011 | Keratoderma with woolly hair type I | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3318103019 | Keratoderma with wooly hair type I | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3449834019 | Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3449835018 | Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3449836017 | Palmoplantar hyperkeratosis with arrhythmogenic cardiomyopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302966013 | A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy and a cutaneous phenotype with manifestation of peculiar woolly hair and palmoplantar keratoderma. The disease was first described in families originating from the Greek island of Naxos. Woolly hair appears from birth, palmoplantar keratoderma develops during the first year of life and cardiomyopathy is clinically manifested by adolescence with 100% penetrance. Symptoms of right heart failure appear during the end stages of the disease. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3777494018 | A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy and a cutaneous phenotype with manifestation of peculiar wooly hair and palmoplantar keratoderma. The disease was first described in families originating from the Greek island of Naxos. Woolly hair appears from birth, palmoplantar keratoderma develops during the first year of life and cardiomyopathy is clinically manifested by adolescence with 100% penetrance. Symptoms of right heart failure appear during the end stages of the disease. | 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)
FHIR