1179293006: Erythrokeratodermia cardiomyopathy syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Erythrokeratodermia cardiomyopathy syndrome
• \Viscus structure finding (finding)\constatation cardiaque\...
• \Myocardial finding\maladie du myocarde\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \cardiopathie (trouble)\atteinte de la structure du cœur\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \cardiopathie (trouble)\maladie du myocarde\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \Digestive system finding (finding)\Finding of mouth region (finding)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
• \Digestive system finding (finding)\Finding of mouth region (finding)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\maladie du myocarde\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\constatation cardiaque\Myocardial finding\maladie du myocarde\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\constatation cardiaque\cardiopathie (trouble)\atteinte de la structure du cœur\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\constatation cardiaque\cardiopathie (trouble)\maladie du myocarde\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\cardiopathie (trouble)\maladie du myocarde\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\maladie du myocarde\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\maladie du myocarde\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Erythrokeratodermia cardiomyopathy syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Erythrokeratodermia cardiomyopathy syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Finding of mouth region (finding)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
• \Finding of head region\Finding of mouth region (finding)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
• \Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
• \Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \Finding of head region\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
• \Finding of head region\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \affection de la tête\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
• \affection de la tête\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \affection de la tête\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
• \affection de la tête\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \constatation fonctionnelle\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Erythrokeratodermia cardiomyopathy syndrome
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Erythrokeratodermia cardiomyopathy syndrome
• \Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Erythrokeratodermia cardiomyopathy syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Erythrokeratodermia cardiomyopathy syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Erythrokeratodermia cardiomyopathy syndrome
• \Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Erythrokeratodermia cardiomyopathy syndrome
• \constatation cardiovasculaire\constatation cardiaque\Myocardial finding\maladie du myocarde\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \constatation cardiovasculaire\constatation cardiaque\cardiopathie (trouble)\atteinte de la structure du cœur\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \constatation cardiovasculaire\constatation cardiaque\cardiopathie (trouble)\maladie du myocarde\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Erythrokeratodermia cardiomyopathy syndrome
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\maladie du myocarde\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Cardiovascular system hereditary disorder\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Cardiovascular system hereditary disorder\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\maladie du myocarde\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\affection d'un système corporel\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\affection d'un système corporel\Disorder of mediastinum (disorder)\cardiopathie (trouble)\maladie du myocarde\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\maladie du myocarde\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\affection de la tête\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\affection de la tête\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\affection de la tête\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\affection de la tête\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Erythrokeratodermia cardiomyopathy syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Erythrokeratodermia cardiomyopathy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4650575017	Erythrokeratodermia cardiomyopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4650576016	Erythrokeratodermia cardiomyopathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4650577013	EKC (erythrokeratodermia cardiomyopathy) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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