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715535009: Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder)


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
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
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
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
5475521000241111 syndrome d'hyperkératose palmoplantaire et cardiomyopathie arythmogène fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3381011001000113 Naxos-Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


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 anomalie du développement 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 anomalie du développement 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 cardiomyopathie arythmogène du ventricule droit 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 anomalie du développement 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)

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