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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
141357014 Epidermolysis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
424351000274110 Epidermolyse de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
424351000274110 Epidermolyse 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
Epidermolysis (morphologic abnormality) Is a Lysis false Inferred relationship Existential restriction modifier (core metadata concept)
Epidermolysis (morphologic abnormality) Is a Lysis true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Recessive dystrophic epidermolysis bullosa Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Centripetalis recessive dystrophic epidermolysis bullosa Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex Associated morphology False Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Dystrophic epidermolysis bullosa inverse type (disorder) Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Junctional epidermolysis bullosa mitis (disorder) Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Basal epidermolysis bullosa simplex (disorder) Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Localised junctional epidermolysis bullosa Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Progressive recessive dystrophic epidermolysis bullosa (disorder) Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Inherited epidermolysis bullosa Associated morphology False Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Epidermolysis bullosa simplex, Ogna type Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Epidermolysis bullosa simplex with hypodontia Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Suprabasal epidermolysis bullosa simplex (disorder) Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Epidermolysis bullosa simplex herpetiformis Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Epidermolysis bullosa simplex with mottled pigmentation (disorder) Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Generalized recessive non-mutilating dystrophic epidermolysis bullosa Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital junctional epidermolysis bullosa Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Epidermolysis bullosa simplex with neuromuscular disease Associated morphology False Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal autosomal recessive epidermolysis bullosa simplex Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Epidermolysis simplex superficialis Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Junctional epidermolysis bullosa non-Herlitz type (disorder) Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Dystrophic epidermolysis bullosa (disorder) Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
A form of junctional epidermolysis bullosa characterised 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 (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Localized dystrophic epidermolysis bullosa Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Epidermolysis bullosa pruriginosa (disorder) Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Localised recessive dystrophic epidermolysis bullosa Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Generalized dystrophic epidermolysis bullosa Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Generalized recessive dystrophic epidermolysis bullosa mitis Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Junctional epidermolysis bullosa gravis of Herlitz (disorder) Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Inverse junctional epidermolysis bullosa Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Progressive junctional epidermolysis bullosa (neurotrophic) Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Laryngo-onycho-cutaneous syndrome (disorder) Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Epidermolysis bullosa simplex with muscular dystrophy Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Epidermolysis bullosa simplex due to BP230 deficiency Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Drug-induced epidermolysis bullosa acquisita (disorder) Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Transient neonatal epidermolysis bullosa acquisita (disorder) Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive epidermolysis bullosa simplex Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Intermediate epidermolysis bullosa simplex with cardiomyopathy Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal acantholytic erosive disorder Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder) Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Localised non-Herlitz junctional epidermolysis bullosa Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Kindler epidermolysis bullosa Associated morphology True Epidermolysis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2

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