1179293006: Erythrokeratodermia cardiomyopathy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Erythrokeratodermia cardiomyopathy syndrome

\Viscus structure finding\Cardiac finding\...

\Myocardial finding\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome

\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome
\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome

\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Erythrokeratodermia cardiomyopathy syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth\Erythrokeratodermia cardiomyopathy syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Erythrokeratodermia cardiomyopathy syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Erythrokeratodermia cardiomyopathy syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of hard tissues of teeth\Erythrokeratodermia cardiomyopathy syndrome

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Erythrokeratodermia cardiomyopathy syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Erythrokeratodermia cardiomyopathy syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Erythrokeratodermia cardiomyopathy syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth\Erythrokeratodermia cardiomyopathy syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Erythrokeratodermia cardiomyopathy syndrome
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Erythrokeratodermia cardiomyopathy syndrome

\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Erythrokeratodermia cardiomyopathy syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Erythrokeratodermia cardiomyopathy syndrome

\Functional finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Erythrokeratoderma\Erythrokeratodermia cardiomyopathy syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Erythrokeratoderma\Erythrokeratodermia cardiomyopathy syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Erythrokeratoderma\Erythrokeratodermia cardiomyopathy syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Erythrokeratodermia cardiomyopathy syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Erythrokeratodermia cardiomyopathy syndrome
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Erythrokeratoderma\Erythrokeratodermia cardiomyopathy syndrome

\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Erythrokeratodermia cardiomyopathy syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Erythrokeratoderma\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Erythrokeratoderma\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Erythrokeratoderma\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Erythrokeratoderma\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of hard tissues of teeth\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Erythrokeratodermia cardiomyopathy syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Erythrokeratodermia cardiomyopathy syndrome

Status: current, Primitive. Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4650575017 Erythrokeratodermia cardiomyopathy syndrome en Synonym Active Case insensitive SNOMED CT core

4650576016 Erythrokeratodermia cardiomyopathy syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4650577013 EKC (erythrokeratodermia cardiomyopathy) syndrome en Synonym Active Case sensitive SNOMED CT core

4650579011 A rare genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy and dental enamel anomalies. Variable features include failure to thrive, developmental delay and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis. en Definition Active Case sensitive SNOMED CT core

4650580014 A rare genetic erythrokeratoderma disorder characterised by generalised cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy and dental enamel anomalies. Variable features include failure to thrive, developmental delay and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Erythrokeratodermia cardiomyopathy syndrome	Is a	Hereditary disorder of tooth	true	Inferred relationship	Some
Erythrokeratodermia cardiomyopathy syndrome	Is a	Erythrokeratoderma	true	Inferred relationship	Some
Erythrokeratodermia cardiomyopathy syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Erythrokeratodermia cardiomyopathy syndrome	Is a	Congestive cardiomyopathy	true	Inferred relationship	Some
Erythrokeratodermia cardiomyopathy syndrome	Is a	Disorder of hard tissues of teeth	true	Inferred relationship	Some
Erythrokeratodermia cardiomyopathy syndrome	Is a	Disorder of skin	true	Inferred relationship	Some
Erythrokeratodermia cardiomyopathy syndrome	Interprets	Keratinisation	true	Inferred relationship	Some	4
Erythrokeratodermia cardiomyopathy syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	4
Erythrokeratodermia cardiomyopathy syndrome	Finding site	Myocardium structure	true	Inferred relationship	Some	1
Erythrokeratodermia cardiomyopathy syndrome	Associated morphology	Dilatation	true	Inferred relationship	Some	1
Erythrokeratodermia cardiomyopathy syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2
Erythrokeratodermia cardiomyopathy syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Erythrokeratodermia cardiomyopathy syndrome	Finding site	Enamel structure	true	Inferred relationship	Some	3
Erythrokeratodermia cardiomyopathy syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4650575017	Erythrokeratodermia cardiomyopathy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4650576016	Erythrokeratodermia cardiomyopathy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4650577013	EKC (erythrokeratodermia cardiomyopathy) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4650579011	A rare genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy and dental enamel anomalies. Variable features include failure to thrive, developmental delay and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.	en	Definition	Active	Case sensitive	SNOMED CT core
4650580014	A rare genetic erythrokeratoderma disorder characterised by generalised cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy and dental enamel anomalies. Variable features include failure to thrive, developmental delay and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.	en	Definition	Active	Case sensitive	SNOMED CT core