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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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Naxos disease Is a Congenital keratoderma false Inferred relationship Some
Naxos disease Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Naxos disease Is a Arrhythmogenic right ventricular dysplasia (disorder) true Inferred relationship Some
Naxos disease Is a Hereditary disorder of the integument false Inferred relationship Some
Naxos disease Has definitional manifestation Abnormal keratinization false Inferred relationship Some
Naxos disease Occurrence Congenital true Inferred relationship Some 4
Naxos disease Finding site Skin structure false Inferred relationship Some 4
Naxos disease Associated morphology Developmental anomaly false Inferred relationship Some 5
Naxos disease Occurrence Congenital false Inferred relationship Some 5
Naxos disease Finding site Right cardiac ventricular structure (body structure) false Inferred relationship Some 5
Naxos disease Occurrence Congenital false Inferred relationship Some 6
Naxos disease Finding site Skin structure false Inferred relationship Some 6
Naxos disease Associated morphology Developmental anomaly false Inferred relationship Some 4
Naxos disease Associated morphology Hyperkeratosis false Inferred relationship Some 6
Naxos disease Is a Hereditary palmoplantar keratoderma true Inferred relationship Some
Naxos disease Is a Congenital wooly hair (disorder) false Inferred relationship Some
Naxos disease Is a Arrhythmogenic right ventricular cardiomyopathy false Inferred relationship Some
Naxos disease Is a Cardiovascular system hereditary disorder false Inferred relationship Some
Naxos disease Finding site Right cardiac ventricular structure (body structure) false Inferred relationship Some 4
Naxos disease Finding site Myocardium structure false Inferred relationship Some 5
Naxos disease Associated morphology Developmental anomaly false Inferred relationship Some 1
Naxos disease Occurrence Congenital true Inferred relationship Some 1
Naxos disease Finding site Hair shaft structure false Inferred relationship Some 1
Naxos disease Is a Congenital anomaly of skin false Inferred relationship Some
Naxos disease Has interpretation Abnormal false Inferred relationship Some 3
Naxos disease Interprets Keratinization false Inferred relationship Some 3
Naxos disease Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Naxos disease Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Naxos disease Occurrence Congenital true Inferred relationship Some 2
Naxos disease Finding site Hair shaft structure true Inferred relationship Some 2
Naxos disease Associated morphology Hyperkeratosis true Inferred relationship Some 1
Naxos disease Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Naxos disease Finding site Skin structure false Inferred relationship Some 1
Naxos disease Finding site Skin structure of sole of foot (body structure) false Inferred relationship Some 3
Naxos disease Finding site Skin structure of palmar area of hand false Inferred relationship Some 6
Naxos disease Associated morphology Hyperkeratosis false Inferred relationship Some 3
Naxos disease Is a Autosomal recessive familial woolly hair true Inferred relationship Some
Naxos disease Is a Congenital abnormality of foot and toes (disorder) true Inferred relationship Some
Naxos disease Is a Congenital anomaly of hand (disorder) true Inferred relationship Some
Naxos disease Finding site Skin structure of sole of foot (body structure) true Inferred relationship Some 1
Naxos disease Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Naxos disease Occurrence Congenital true Inferred relationship Some 3
Naxos disease Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Naxos disease Is a Congenital anomaly of myocardium true Inferred relationship Some
Naxos disease Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Naxos disease Finding site Structure of myocardium of right ventricle true Inferred relationship Some 3
Naxos disease Associated morphology Hyperkeratosis true Inferred relationship Some 4
Naxos disease Finding site Skin structure of palmar area of hand true Inferred relationship Some 4
Naxos disease Is a Congenital right ventricular anomaly true Inferred relationship Some
Naxos disease 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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