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 |
3318093013 | Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3318095018 | Carvajal syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3318099012 | Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3318100016 | Keratoderma with woolly hair type II | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3318101017 | Keratoderma with wooly hair type II | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3318116019 | Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3318092015 | This syndrome has characteristics of wooly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle. Only a few cases have been reported, all involving patients from Ecuador, India or Turkey. The wooly hair is present at birth and the palmoplantar keratoderma appears during the first year of life. The cardiac anomaly presents during childhood and is marked by dilation of the left ventricle accompanied by alterations in muscle contractility. The syndrome is transmitted as an autosomal recessive trait and is caused by mutations in the DSP gene (6p24) encoding desmoplakin, a protein involved in cell adhesion. The syndrome is similar to Naxos disease. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3318102012 | This syndrome has characteristics of woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle. Only a few cases have been reported, all involving patients from Ecuador, India or Turkey. The woolly hair is present at birth and the palmoplantar keratoderma appears during the first year of life. The cardiac anomaly presents during childhood and is marked by dilation of the left ventricle accompanied by alterations in muscle contractility. The syndrome is transmitted as an autosomal recessive trait and is caused by mutations in the DSP gene (6p24) encoding desmoplakin, a protein involved in cell adhesion. The syndrome is similar to Naxos disease. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5480481000241113 | syndrome de cheveux laineux et hyperkératose palmoplantaire avec cardiomyopathie dilatée | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Is a | Hereditary palmoplantar keratoderma | true | Inferred relationship | Some | ||
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Is a | Congenital wooly hair (disorder) | false | Inferred relationship | Some | ||
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Is a | Congestive cardiomyopathy (disorder) | true | Inferred relationship | Some | ||
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Has definitional manifestation | Abnormal keratinization | false | Inferred relationship | Some | ||
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 6 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Finding site | Skin structure | false | Inferred relationship | Some | 6 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Associated morphology | Hyperkeratosis | false | Inferred relationship | Some | 8 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Finding site | Skin structure | false | Inferred relationship | Some | 8 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 7 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Associated morphology | Dilatation | true | Inferred relationship | Some | 5 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Finding site | Myocardium structure | true | Inferred relationship | Some | 5 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Finding site | Hair shaft structure | false | Inferred relationship | Some | 7 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Is a | Congenital anomaly of skin | false | Inferred relationship | Some | ||
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Has interpretation | Abnormal | false | Inferred relationship | Some | 1 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Interprets | Keratinization | false | Inferred relationship | Some | 1 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 3 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 4 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 4 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Finding site | Skin structure | false | Inferred relationship | Some | 3 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Finding site | Hair shaft structure | true | Inferred relationship | Some | 2 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 1 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 3 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Finding site | Skin structure of palmar area of hand | true | Inferred relationship | Some | 1 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Is a | Autosomal recessive familial woolly hair | true | Inferred relationship | Some | ||
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | Finding site | Skin structure of sole of foot (body structure) | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets