715535009: Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Hair finding\Disorder of hair\...

\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair\Naxos disease

\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair\Naxos disease

\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Naxos disease
\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Naxos disease
\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Naxos disease
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair\Naxos disease
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair\Naxos disease
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair\Naxos disease

\Viscus structure finding (finding)\Cardiac finding\...

\Finding of right ventricle\Disorder of right cardiac ventricle (disorder)\Right ventricular abnormality\...

\Congenital right ventricular anomaly\Naxos disease

\Arrhythmogenic right ventricular dysplasia (disorder)\Naxos disease

\Myocardial finding\Myocardial disease\...

\Congenital anomaly of myocardium\Naxos disease

\Cardiomyopathy\Arrhythmogenic right ventricular dysplasia (disorder)\Naxos disease

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

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

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

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

Back to Start

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
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
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