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85269007: Epidermolysis (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
141357014 Epidermolysis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
827286018 Epidermolysis (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2839741000005111 epidermolyse da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Epidermolysis Is a Lysis false Inferred relationship Some
Epidermolysis Is a Lysis (morphologic abnormality) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Recessive dystrophic epidermolysis bullosa Associated morphology True Epidermolysis Inferred relationship Some 1
Centripetalis recessive dystrophic epidermolysis bullosa (disorder) Associated morphology True Epidermolysis Inferred relationship Some 1
Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex (disorder) Associated morphology False Epidermolysis Inferred relationship Some 1
Dystrophic epidermolysis bullosa inverse type (disorder) Associated morphology True Epidermolysis Inferred relationship Some 1
Junctional epidermolysis bullosa mitis Associated morphology True Epidermolysis Inferred relationship Some 1
Basal epidermolysis bullosa simplex (disorder) Associated morphology True Epidermolysis Inferred relationship Some 1
Localised junctional epidermolysis bullosa Associated morphology True Epidermolysis Inferred relationship Some 1
Progressive recessive dystrophic epidermolysis bullosa (disorder) Associated morphology True Epidermolysis Inferred relationship Some 1
Hereditær bulløs epidermolyse Associated morphology False Epidermolysis Inferred relationship Some 1
Epidermolysis bullosa simplex, Ogna type (disorder) Associated morphology True Epidermolysis Inferred relationship Some 1
A form of localized dystrophic epidermolysis bullosa characterized by trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement. Associated morphology True Epidermolysis Inferred relationship Some 1
Epidermolysis bullosa simplex with hypodontia Associated morphology True Epidermolysis Inferred relationship Some 1
Suprabasal epidermolysis bullosa simplex (disorder) Associated morphology True Epidermolysis Inferred relationship Some 1
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome Associated morphology True Epidermolysis Inferred relationship Some 2
Epidermolysis bullosa simplex herpetiformis Associated morphology True Epidermolysis Inferred relationship Some 1
Epidermolysis bullosa simplex with mottled pigmentation Associated morphology True Epidermolysis Inferred relationship Some 1
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder) Associated morphology True Epidermolysis Inferred relationship Some 1
Congenital junctional epidermolysis bullosa Associated morphology True Epidermolysis Inferred relationship Some 1
Ukompliceret bulløs epidermolyse med neuromuskulær sygdom Associated morphology False Epidermolysis Inferred relationship Some 1
Lethal autosomal recessive epidermolysis bullosa simplex Associated morphology True Epidermolysis Inferred relationship Some 1
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex characterized by generalized superficial erosions and less commonly blistering. Associated morphology True Epidermolysis Inferred relationship Some 1
Epidermolysis simplex superficialis Associated morphology True Epidermolysis Inferred relationship Some 1
Junctional epidermolysis bullosa non-Herlitz type (disorder) Associated morphology True Epidermolysis Inferred relationship Some 1
Dystrophic epidermolysis bullosa Associated morphology True Epidermolysis Inferred relationship Some 1
A form of junctional epidermolysis bullosa characterized by onset in childhood or young adulthood of blistering that first occurs around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, and knees. Lesions heal with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries. Associated morphology True Epidermolysis Inferred relationship Some 1
Localised dystrophic epidermolysis bullosa Associated morphology True Epidermolysis Inferred relationship Some 1
Epidermolysis bullosa pruriginosa (disorder) Associated morphology True Epidermolysis Inferred relationship Some 1
Localised recessive dystrophic epidermolysis bullosa Associated morphology True Epidermolysis Inferred relationship Some 1
A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth. Associated morphology True Epidermolysis Inferred relationship Some 1
A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications. Associated morphology True Epidermolysis Inferred relationship Some 2
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities. Associated morphology True Epidermolysis Inferred relationship Some 1
Generalized dystrophic epidermolysis bullosa Associated morphology True Epidermolysis Inferred relationship Some 1
Generalized recessive dystrophic epidermolysis bullosa mitis Associated morphology True Epidermolysis Inferred relationship Some 1
Junctional epidermolysis bullosa gravis of Herlitz (disorder) Associated morphology True Epidermolysis Inferred relationship Some 1
Inverse junctional epidermolysis bullosa Associated morphology True Epidermolysis Inferred relationship Some 1
Progressive junctional epidermolysis bullosa (neurotrophic) Associated morphology True Epidermolysis Inferred relationship Some 1
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Associated morphology True Epidermolysis Inferred relationship Some 2
A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. Associated morphology True Epidermolysis Inferred relationship Some 1
A rare hereditary basal epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions and bleeding, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age. There is evidence the disease can be caused by homozygous mutation in the EXPH5 gene on chromosome 11q22. Associated morphology True Epidermolysis Inferred relationship Some 1
A rare hereditary basal epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side, and are often several centimeters big. There is evidence the disease is caused by homozygous mutation in the DST (BPAG1) gene on chromosome 6p12. Associated morphology True Epidermolysis Inferred relationship Some 1
A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. Associated morphology True Epidermolysis Inferred relationship Some 2
Drug-induced epidermolysis bullosa acquisita (disorder) Associated morphology True Epidermolysis Inferred relationship Some 2
Transient neonatal epidermolysis bullosa acquisita (disorder) Associated morphology True Epidermolysis Inferred relationship Some 2
Autosomal recessive epidermolysis bullosa simplex Associated morphology True Epidermolysis Inferred relationship Some 1
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. Associated morphology True Epidermolysis Inferred relationship Some 2
Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex characterized by generalized oozing erosions, usually in the absence of blisters. Associated morphology True Epidermolysis Inferred relationship Some 1
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails. Associated morphology True Epidermolysis Inferred relationship Some 1
Localised non-Herlitz junctional epidermolysis bullosa Associated morphology True Epidermolysis Inferred relationship Some 1
A rare inherited epidermolysis bullosa (EB) with characteristics of skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes. Kindler epidermolysis bullosa (KEB) is the fourth major type of EB, after EB simplex, junctional EB, and dystrophic EB. The disease usually manifests at birth with trauma-induced skin blistering that is more prominent on extremities and tends to regress with age, becoming rare in adulthood. Caused by loss-of-function mutations in the kindlin-1 gene (FERMT1; 20p12.3). Transmission is autosomal recessive. Associated morphology True Epidermolysis Inferred relationship Some 2

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