723308003: Epidermolysis bullosa simplex with muscular dystrophy (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\...

\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\...

\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)

\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)

\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\...

\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)

\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)

\Chronic disease of skin\Epidermolysis bullosa simplex with muscular dystrophy (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Chronic disease of skin\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Chronic disease of skin\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Chronic disease of skin\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Chronic disease of skin\Epidermolysis bullosa simplex with muscular dystrophy (disorder)

\Muscle finding\Disorder of muscle\...

\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\...

\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)

\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\...

\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)

\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)

\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\...

\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)

\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)

\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\...

\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)

\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)

\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Chronic disease of skin\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Chronic disease\Chronic disease of skin\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Chronic disease of skin\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Epidermolysis bullosa simplex with muscular dystrophy (disorder)
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\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

5402999013 A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403000014 A form of epidermolysis bullosa simplex (EBS) characterised by generalised blistering associated with muscular dystrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

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

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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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
5402999013	A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403000014	A form of epidermolysis bullosa simplex (EBS) characterised by generalised blistering associated with muscular dystrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core