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719835006: Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome (disorder)


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


0 descendants.

Expanded Value Set


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

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