Code System Concept

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Code System Concept

Code System Concept Code	723308003
Code System Concept Name	Epidermolysis bullosa simplex with muscular dystrophy (disorder)
Code System Preferred Concept Name	Epidermolysis bullosa simplex with muscular dystrophy (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	07/31/2017
SDO Date Created	07/31/2017
SDO Date Revised	07/31/2017
Description	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.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3424004016	Epidermolysis bullosa simplex with muscular dystrophy	Active	Synonym	false	false
3424005015	Limb girdle muscular dystrophy with epidermolysis bullosa simplex	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive epidermolysis bullosa simplex (disorder) {1156849001 , SNOMED-CT } Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) {240054004 , SNOMED-CT } Basal epidermolysis bullosa simplex (disorder) {723163000 , SNOMED-CT } Chronic disease of skin (disorder) {128236002 , SNOMED-CT } Congenital anomaly of skeletal muscle (disorder) {89886004 , SNOMED-CT } Congenital hereditary muscular dystrophy (disorder) {111501005 , SNOMED-CT } Musculoskeletal and connective tissue disorder (disorder) {312225001 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,