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1177176009: 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
5399462015 A rare, inherited, epidermolysis bullosa characterized by 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. Dilated 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
5399463013 A rare, inherited, epidermolysis bullosa characterised by 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. Dilated 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
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
5399462015 A rare, inherited, epidermolysis bullosa characterized by 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. Dilated 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
5399463013 A rare, inherited, epidermolysis bullosa characterised by 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. Dilated 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
3430891001000116 Intermediäre Epidermolysis bullosa simplex mit Kardiomyopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6337741000241114 épidermolyse bulleuse simple intermédiaire avec cardiomyopathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6337751000241112 EBS (épidermolyse bulleuse simple) intermédiaire avec myocardiopathie fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6337741000241114 épidermolyse bulleuse simple intermédiaire avec cardiomyopathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6337751000241112 EBS (épidermolyse bulleuse simple) intermédiaire avec myocardiopathie fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3430891001000116 Intermediäre Epidermolysis bullosa simplex mit Kardiomyopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Intermediate epidermolysis bullosa simplex with cardiomyopathy Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Intermediate epidermolysis bullosa simplex with cardiomyopathy Is a Autosomal dominant epidermolysis bullosa simplex (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Intermediate epidermolysis bullosa simplex with cardiomyopathy Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Intermediate epidermolysis bullosa simplex with cardiomyopathy Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Intermediate epidermolysis bullosa simplex with cardiomyopathy Associated morphology Epidermolysis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Intermediate epidermolysis bullosa simplex with cardiomyopathy Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Intermediate epidermolysis bullosa simplex with cardiomyopathy Finding site Myocardium structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Intermediate epidermolysis bullosa simplex with cardiomyopathy Associated morphology Dilatation true Inferred relationship Existential restriction modifier (core metadata concept) 1
Intermediate epidermolysis bullosa simplex with cardiomyopathy Is a Cardiomyopathy associated with another disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Intermediate epidermolysis bullosa simplex with cardiomyopathy Is a Secondary dilated cardiomyopathy true Inferred relationship Existential restriction modifier (core metadata concept)
Intermediate epidermolysis bullosa simplex with cardiomyopathy Is a Cardiac complication (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Intermediate epidermolysis bullosa simplex with cardiomyopathy Due to Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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