1177176009: Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\...
• \Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Viscus structure finding (finding)\Cardiac finding\...
• \Myocardial finding\Myocardial disease\Cardiomyopathy\...
• \Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Cardiomyopathy associated with another disorder (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Heart disease\Structural disorder of heart\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Heart disease\Cardiac complication\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac complication\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac complication\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Cardiac complication\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac complication\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac complication\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Cardiovascular finding\Cardiac finding\Heart disease\Cardiac complication\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac complication\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac complication\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Cardiac complication\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Secondary dilated cardiomyopathy\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac complication\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)

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
4643885018	Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4643886017	Intermediate epidermolysis bullosa simplex with cardiomyopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4643887014	A rare inherited epidermolysis bullosa with characteristics of aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalised blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. Dilative cardiomyopathy with heart failure complicates the disease course in young adulthood or later and may have lethal outcome. Ultra-structurally, intraepidermal splitting appears at the level of the basal keratinocytes above the hemidesmosomes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4643888016	A rare inherited epidermolysis bullosa with characteristics of aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalized blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. Dilative cardiomyopathy with heart failure complicates the disease course in young adulthood or later and may have lethal outcome. Ultra-structurally, intraepidermal splitting appears at the level of the basal keratinocytes above the hemidesmosomes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Description inactivation indicator reference set

Back to Start