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715535009: syndroom van palmoplantaire keratodermie en aritmogene cardiomyopathie (aandoening)


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
6242731000146111 ziekte van Naxos nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6242751000146117 keratosis palmoplantaris met aritmogene cardiomyopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6242771000146113 keratodermie met wollig haar type I nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6870061000146111 syndroom van palmoplantaire keratodermie en aritmogene cardiomyopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6870071000146117 syndroom van palmoplantaire keratodermie en aritmogene cardiomyopathie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6870151000146114 KWWH type I nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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


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 gebrekkige ontwikkeling (afwijkende morfologie) 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 gebrekkige ontwikkeling (afwijkende morfologie) 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 aritmogene rechterventrikelcardiomyopathie (aandoening) 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 gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 1
Naxos disease Occurrence Congenital true Inferred relationship Some 1
Naxos disease Finding site Hair shaft structure (body 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 (body 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
Naxos disease Is a Congenital palmoplantar keratoderma (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

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