FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

398170002: Autosomal dominant epidermolysis bullosa simplex (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1766089015 Autosomal dominant epidermolysis bullosa simplex (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1777726013 Autosomal dominant epidermolysis bullosa simplex en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786149016 EBS 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5254241000241117 épidermolyse bulleuse simplex autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


4 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant epidermolysis bullosa simplex (disorder) Is a Epidermolysis bullosa simplex true Inferred relationship Some
Autosomal dominant epidermolysis bullosa simplex (disorder) Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
Autosomal dominant epidermolysis bullosa simplex (disorder) Associated morphology Epidermolysis true Inferred relationship Some 1
Autosomal dominant epidermolysis bullosa simplex (disorder) Finding site Connective tissue structure false Inferred relationship Some
Autosomal dominant epidermolysis bullosa simplex (disorder) Associated morphology Keratolysis false Inferred relationship Some 1
Autosomal dominant epidermolysis bullosa simplex (disorder) Associated morphology anomalie congénitale false Inferred relationship Some 2
Autosomal dominant epidermolysis bullosa simplex (disorder) Associated morphology A fluid-filled, raised, often translucent lesion, greater than 1 cm in diameter false Inferred relationship Some 1
Autosomal dominant epidermolysis bullosa simplex (disorder) Occurrence Congenital false Inferred relationship Some
Autosomal dominant epidermolysis bullosa simplex (disorder) Finding site Skin structure false Inferred relationship Some 2
Autosomal dominant epidermolysis bullosa simplex (disorder) Finding site Skin structure false Inferred relationship Some 1
Autosomal dominant epidermolysis bullosa simplex (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Some
Autosomal dominant epidermolysis bullosa simplex (disorder) Is a Hereditary disorder of the integument false Inferred relationship Some
Autosomal dominant epidermolysis bullosa simplex (disorder) Finding site Skin structure false Inferred relationship Some 1
Autosomal dominant epidermolysis bullosa simplex (disorder) Finding site Skin structure false Inferred relationship Some 2
Autosomal dominant epidermolysis bullosa simplex (disorder) Finding site Skin structure false Inferred relationship Some 1
Autosomal dominant epidermolysis bullosa simplex (disorder) Finding site Skin structure false Inferred relationship Some 2
Autosomal dominant epidermolysis bullosa simplex (disorder) Finding site Skin structure false Inferred relationship Some 1
Autosomal dominant epidermolysis bullosa simplex (disorder) Finding site Skin structure false Inferred relationship Some 2
Autosomal dominant epidermolysis bullosa simplex (disorder) Finding site Skin structure false Inferred relationship Some 1
Autosomal dominant epidermolysis bullosa simplex (disorder) Finding site Skin structure false Inferred relationship Some 2
Autosomal dominant epidermolysis bullosa simplex (disorder) Finding site Skin structure true Inferred relationship Some 1
Autosomal dominant epidermolysis bullosa simplex (disorder) Finding site Skin structure false Inferred relationship Some 2
Autosomal dominant epidermolysis bullosa simplex (disorder) Occurrence Congenital false Inferred relationship Some 3
Autosomal dominant epidermolysis bullosa simplex (disorder) Associated morphology anomalie du développement false Inferred relationship Some 3
Autosomal dominant epidermolysis bullosa simplex (disorder) Finding site Skin structure false Inferred relationship Some 3
Autosomal dominant epidermolysis bullosa simplex (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Autosomal dominant epidermolysis bullosa simplex (disorder) Occurrence Congenital true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Epidermolysis bullosa simplex, Ogna type (disorder) Is a True Autosomal dominant epidermolysis bullosa simplex (disorder) Inferred relationship Some
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. Is a True Autosomal dominant epidermolysis bullosa simplex (disorder) Inferred relationship Some
Dominant epidermolysis bullosa simplex, Weber-Cockayne type (disorder) Is a True Autosomal dominant epidermolysis bullosa simplex (disorder) Inferred relationship Some
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. Is a True Autosomal dominant epidermolysis bullosa simplex (disorder) Inferred relationship Some

This concept is not in any reference sets

Back to Start