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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


0 descendants.

Expanded Value Set


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)

GB English

US English

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