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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
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
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
3302961015 Keratosis palmoplantaris and arrythmogenic cardiomyopathy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3302962010 Keratosis palmoplantaris and arrythmogenic cardiomyopathy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (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
3302965012 Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy 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
3302966013 A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy and a cutaneous phenotype with manifestation of peculiar woolly hair and palmoplantar keratoderma. The disease was first described in families originating from the Greek island of Naxos. Woolly hair appears from birth, palmoplantar keratoderma develops during the first year of life and cardiomyopathy is clinically manifested by adolescence with 100% penetrance. Symptoms of right heart failure appear during the end stages of the disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3777494018 A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy and a cutaneous phenotype with manifestation of peculiar wooly hair and palmoplantar keratoderma. The disease was first described in families originating from the Greek island of Naxos. Woolly hair appears from birth, palmoplantar keratoderma develops during the first year of life and cardiomyopathy is clinically manifested by adolescence with 100% penetrance. Symptoms of right heart failure appear during the end stages of the disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
3381011001000113 Naxos-Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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
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
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Is a Congenital keratoderma false Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Is a Arrhythmogenic right ventricular dysplasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Finding site Right cardiac ventricular structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Associated morphology Hyperkeratosis false Inferred relationship Existential restriction modifier (core metadata concept) 6
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Is a Hereditary palmoplantar keratoderma true Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Is a Congenital wooly hair (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Is a cardiomyopathie arythmogène du ventricule droit false Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Is a Cardiovascular system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Finding site Right cardiac ventricular structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Finding site Myocardium structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Finding site Hair shaft structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Is a Congenital anomaly of skin (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Has interpretation Abnormal false Inferred relationship Existential restriction modifier (core metadata concept) 3
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Interprets Keratinisation false Inferred relationship Existential restriction modifier (core metadata concept) 3
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Finding site Hair shaft structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 1
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Finding site Skin structure of sole of foot (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Finding site Skin structure of palmar area of hand false Inferred relationship Existential restriction modifier (core metadata concept) 6
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Associated morphology Hyperkeratosis false Inferred relationship Existential restriction modifier (core metadata concept) 3
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Is a Autosomal recessive familial wooly hair true Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Is a Congenital anomaly of foot true Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Is a Congenital anomaly of hand (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Finding site Skin structure of sole of foot (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Is a Congenital anomaly of myocardium true Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Finding site Structure of myocardium of right ventricle (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 4
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Finding site Skin structure of palmar area of hand true Inferred relationship Existential restriction modifier (core metadata concept) 4
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Is a Congenital right ventricular anomaly true Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Finding site Cardiac conducting system structure true Inferred relationship Existential restriction modifier (core metadata concept) 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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