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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
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 | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 4 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 4 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 3 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | morphologie associée (attribut) | structure anormale sur le plan morphologique | false | Inferred relationship | Some | 3 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | localisation d'une constatation (attribut) | Hair shaft structure | true | Inferred relationship | Some | 2 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | morphologie associée (attribut) | structure anormale sur le plan morphologique | 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 | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 1 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 3 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | localisation d'une constatation (attribut) | peau de la région palmaire de la main (structure corporelle) | true | Inferred relationship | Some | 1 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | est un(e) (attribut) | Autosomal recessive familial woolly hair | true | Inferred relationship | Some | ||
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | localisation d'une constatation (attribut) | Skin structure of sole of foot | true | Inferred relationship | Some | 3 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | est un(e) (attribut) | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | est un(e) (attribut) | Hereditary palmoplantar keratoderma | true | Inferred relationship | Some | ||
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | est un(e) (attribut) | Congenital wooly hair (disorder) | false | Inferred relationship | Some | ||
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | est un(e) (attribut) | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | est un(e) (attribut) | Congestive cardiomyopathy (disorder) | true | Inferred relationship | Some | ||
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | est défini par la manifestation de (attribut) | Abnormal keratinisation | false | Inferred relationship | Some | ||
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 6 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 6 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | morphologie associée (attribut) | Hyperkeratosis | false | Inferred relationship | Some | 8 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 8 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 7 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | morphologie associée (attribut) | dilatation | true | Inferred relationship | Some | 5 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | localisation d'une constatation (attribut) | structure du myocarde | true | Inferred relationship | Some | 5 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | localisation d'une constatation (attribut) | Hair shaft structure | false | Inferred relationship | Some | 7 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | est un(e) (attribut) | Congenital anomaly of skin | false | Inferred relationship | Some | ||
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | a pour interprétation (attribut) | anormal | false | Inferred relationship | Some | 1 | |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome | interprète (attribut) | Keratinization, function (observable entity) | false | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)