716701004: Epidermolysis bullosa simplex co-occurrent with pyloric atresia (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\...

\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia

\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia

\Viscus structure finding\Abdominal organ finding\Stomach finding\Disorder of stomach\...

\Lesion of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia

\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia

\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of upper gastrointestinal tract\Disorder of stomach\Lesion of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of upper gastrointestinal tract\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding\Gastrointestinal tract finding\Stomach finding\Disorder of stomach\Lesion of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding\Gastrointestinal tract finding\Stomach finding\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of upper gastrointestinal tract\Disorder of stomach\Lesion of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of upper gastrointestinal tract\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disorder of upper gastrointestinal tract\Disorder of stomach\Lesion of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disorder of upper gastrointestinal tract\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of stomach\Lesion of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of stomach\Lesion of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Stomach finding\Disorder of stomach\Lesion of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Stomach finding\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of stomach\Lesion of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of stomach\Lesion of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia

\General finding of soft tissue\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia

\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 pyloric atresia
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia

\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 pyloric atresia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Degenerative disorder\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\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 pyloric atresia
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Epidermolysis bullosa simplex with pyloric atresia
\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 pyloric atresia
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of upper gastrointestinal tract\Disorder of stomach\Lesion of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of upper gastrointestinal tract\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disorder of upper gastrointestinal tract\Disorder of stomach\Lesion of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disorder of upper gastrointestinal tract\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of stomach\Lesion of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of stomach\Lesion of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3307251014 Epidermolysis bullosa simplex with pyloric atresia en Synonym Active Case insensitive SNOMED CT core

3307254018 Epidermolysis bullosa simplex co-occurrent with pyloric atresia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3307255017 Epidermolysis bullosa simplex co-occurrent with pyloric atresia en Synonym Active Case insensitive SNOMED CT core

3307252019 A basal subtype of epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia. Prevalence is unknown, but at least 12 families have been reported to date. Onset is at birth and babies are usually born prematurely with a low weight and poor general condition. Most cases are due to mutations in the PLEC gene (8q24) encoding the plectin 1 protein. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

3307253012 A basal subtype of epidermolysis bullosa simplex characterised by generalised severe blistering with widespread congenital absence of skin and pyloric atresia. Prevalence is unknown, but at least 12 families have been reported to date. Onset is at birth and babies are usually born prematurely with a low weight and poor general condition. Most cases are due to mutations in the PLEC gene (8q24) encoding the plectin 1 protein. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Epidermolysis bullosa simplex with pyloric atresia	Associated morphology	Congenital atresia	true	Inferred relationship	Some	1
Epidermolysis bullosa simplex with pyloric atresia	Occurrence	Congenital	true	Inferred relationship	Some	1
Epidermolysis bullosa simplex with pyloric atresia	Occurrence	Congenital	true	Inferred relationship	Some	2
Epidermolysis bullosa simplex with pyloric atresia	Finding site	Skin structure	true	Inferred relationship	Some	2
Epidermolysis bullosa simplex with pyloric atresia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Epidermolysis bullosa simplex with pyloric atresia	Associated morphology	Epidermolysis	true	Inferred relationship	Some	2
Epidermolysis bullosa simplex with pyloric atresia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Epidermolysis bullosa simplex with pyloric atresia	Finding site	Pyloric structure of stomach	true	Inferred relationship	Some	1
Epidermolysis bullosa simplex with pyloric atresia	Is a	Autosomal recessive epidermolysis bullosa simplex	true	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	Is a	Pyloric atresia	true	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	Is a	Epidermolysis bullosa simplex	false	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	Finding site	Connective tissue structure	false	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	Finding site	Skin structure	false	Inferred relationship	Some	5
Epidermolysis bullosa simplex with pyloric atresia	Occurrence	Congenital	false	Inferred relationship	Some	6
Epidermolysis bullosa simplex with pyloric atresia	Associated morphology	Congenital atresia	false	Inferred relationship	Some	4
Epidermolysis bullosa simplex with pyloric atresia	Occurrence	Congenital	false	Inferred relationship	Some	4
Epidermolysis bullosa simplex with pyloric atresia	Finding site	Pyloric structure of stomach	false	Inferred relationship	Some	4
Epidermolysis bullosa simplex with pyloric atresia	Finding site	Skin structure	false	Inferred relationship	Some	6
Epidermolysis bullosa simplex with pyloric atresia	Associated morphology	Epidermolysis	false	Inferred relationship	Some	5
Epidermolysis bullosa simplex with pyloric atresia	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Unit of use quantity reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3307251014	Epidermolysis bullosa simplex with pyloric atresia	en	Synonym	Active	Case insensitive	SNOMED CT core
3307254018	Epidermolysis bullosa simplex co-occurrent with pyloric atresia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3307255017	Epidermolysis bullosa simplex co-occurrent with pyloric atresia	en	Synonym	Active	Case insensitive	SNOMED CT core
3307252019	A basal subtype of epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia. Prevalence is unknown, but at least 12 families have been reported to date. Onset is at birth and babies are usually born prematurely with a low weight and poor general condition. Most cases are due to mutations in the PLEC gene (8q24) encoding the plectin 1 protein. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core
3307253012	A basal subtype of epidermolysis bullosa simplex characterised by generalised severe blistering with widespread congenital absence of skin and pyloric atresia. Prevalence is unknown, but at least 12 families have been reported to date. Onset is at birth and babies are usually born prematurely with a low weight and poor general condition. Most cases are due to mutations in the PLEC gene (8q24) encoding the plectin 1 protein. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core