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 |
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 | Inactive | 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5400958013 | A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5400959017 | A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3302961015 | Keratosis palmoplantaris and arrythmogenic cardiomyopathy syndrome (disorder) | en | Fully specified name | Inactive | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3302962010 | Keratosis palmoplantaris and arrythmogenic cardiomyopathy syndrome | en | Synonym (core metadata concept) | Inactive | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
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 |
3302965012 | Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy | en | Synonym (core metadata concept) | Inactive | 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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Is a | Congenital keratoderma | false | Inferred relationship | Some | ||
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Is a | Arrhythmogenic right ventricular dysplasia (disorder) | true | Inferred relationship | Some | ||
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Has definitional manifestation | Abnormal keratinization | false | Inferred relationship | Some | ||
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Associated morphology | dysgenese | false | Inferred relationship | Some | 5 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Finding site | Right cardiac ventricular structure (body structure) | false | Inferred relationship | Some | 5 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Finding site | Skin structure | false | Inferred relationship | Some | 6 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Associated morphology | dysgenese | false | Inferred relationship | Some | 4 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Associated morphology | Hyperkeratosis | false | Inferred relationship | Some | 6 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Is a | Hereditary palmoplantar keratoderma | true | Inferred relationship | Some | ||
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Is a | Congenital woolly hair | false | Inferred relationship | Some | ||
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Is a | Arytmogen kardiomyopati af højre ventrikel | false | Inferred relationship | Some | ||
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Is a | Cardiovascular system hereditary disorder | false | Inferred relationship | Some | ||
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Finding site | Right cardiac ventricular structure (body structure) | false | Inferred relationship | Some | 4 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Finding site | Myocardium structure | false | Inferred relationship | Some | 5 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Associated morphology | dysgenese | false | Inferred relationship | Some | 1 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Finding site | Hair shaft structure | false | Inferred relationship | Some | 1 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Is a | Congenital anomaly of skin | false | Inferred relationship | Some | ||
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Has interpretation | Abnormal | false | Inferred relationship | Some | 3 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Interprets | Keratinization | false | Inferred relationship | Some | 3 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Finding site | Hair shaft structure | true | Inferred relationship | Some | 2 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 1 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Finding site | Skin structure | false | Inferred relationship | Some | 1 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Finding site | Skin structure of sole of foot | false | Inferred relationship | Some | 3 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Finding site | Skin structure of palmar area of hand | false | Inferred relationship | Some | 6 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Associated morphology | Hyperkeratosis | false | Inferred relationship | Some | 3 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Is a | Autosomal recessive familial woolly hair | true | Inferred relationship | Some | ||
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Is a | Congenital anomaly of foot | true | Inferred relationship | Some | ||
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Is a | Congenital anomaly of hand (disorder) | true | Inferred relationship | Some | ||
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Finding site | Skin structure of sole of foot | true | Inferred relationship | Some | 1 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Is a | Congenital anomaly of myocardium | true | Inferred relationship | Some | ||
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 3 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Finding site | Structure of myocardium of right ventricle | true | Inferred relationship | Some | 3 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 4 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Finding site | Skin structure of palmar area of hand | true | Inferred relationship | Some | 4 | |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Is a | Congenital right ventricular anomaly | true | Inferred relationship | Some | ||
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. | Finding site | Cardiac conducting system structure | true | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)