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723308003: Epidermolysis bullosa simplex with muscular dystrophy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3424003010 Epidermolysis bullosa simplex with muscular dystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424004016 Epidermolysis bullosa simplex with muscular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424005015 Limb girdle muscular dystrophy with epidermolysis bullosa simplex en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424006019 A basal subtype of epidermolysis bullosa simplex characterized by generalized blistering associated with muscular dystrophy. Onset of blistering is usually as early as birth, muscular dystrophy manifests between infancy and adulthood. Blisters are often hemorrhagic and heal with mild atrophic scarring and rare milia formation. Associated findings comprise markedly dystrophic nails, and focal keratoderma of the palms and soles. Extracutaneous involvement is usually present. Caused by mutations in the PLEC gene (8q24) encoding plectin. Plectin deficiency can be demonstrated in skin and muscle by analysis with specific antibodies. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424007011 A basal subtype of epidermolysis bullosa simplex characterised by generalised blistering associated with muscular dystrophy. Onset of blistering is usually as early as birth, muscular dystrophy manifests between infancy and adulthood. Blisters are often haemorrhagic and heal with mild atrophic scarring and rare milia formation. Associated findings comprise markedly dystrophic nails, and focal keratoderma of the palms and soles. Extracutaneous involvement is usually present. Caused by mutations in the PLEC gene (8q24) encoding plectin. Plectin deficiency can be demonstrated in skin and muscle by analysis with specific antibodies. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Is a Autosomal recessive muscular dystrophy with limb girdle distribution true Inferred relationship Some
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Is a Musculoskeletal and connective tissue disorder (disorder) false Inferred relationship Some
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Is a Basal epidermolysis bullosa simplex (disorder) true Inferred relationship Some
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Finding site Connective tissue structure false Inferred relationship Some
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Occurrence Congenital false Inferred relationship Some 5
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Occurrence Congenital false Inferred relationship Some 6
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Occurrence Congenital false Inferred relationship Some 7
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 7
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Finding site Skin structure false Inferred relationship Some 7
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Associated morphology Epidermolysis false Inferred relationship Some 5
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Finding site Stratum germinativum false Inferred relationship Some 5
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Associated morphology Dystrophy false Inferred relationship Some 6
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Finding site Skeletal muscle structure false Inferred relationship Some 6
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Occurrence Congenital true Inferred relationship Some 1
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Is a Congenital anomaly of skeletal muscle false Inferred relationship Some
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Occurrence Congenital true Inferred relationship Some 2
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Associated morphology Dystrophy true Inferred relationship Some 2
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Finding site Stratum germinativum true Inferred relationship Some 1
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Finding site Skeletal muscle structure true Inferred relationship Some 2
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Associated morphology Epidermolysis true Inferred relationship Some 1
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Is a Chronic disease of skin true Inferred relationship Some
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Is a Congenital hereditary muscular dystrophy true Inferred relationship Some
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Is a Autosomal recessive epidermolysis bullosa simplex true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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