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

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\...

\Degenerative skin disorder (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 (finding)\constatation à propos d'un organe abdominal\Stomach finding\...

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

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

\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\anomalie congénitale du tractus gastro-intestinal\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\affection du tractus gastro-intestinal supérieur (trouble)\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Stomach finding\Lesion of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Stomach finding\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\anomalie congénitale du tractus gastro-intestinal\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\affection du tractus gastro-intestinal supérieur (trouble)\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\anomalie congénitale du tractus gastro-intestinal\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\affection du tractus gastro-intestinal supérieur (trouble)\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding (finding)\maladie de l'appareil digestif\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 (finding)\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Digestive system finding (finding)\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\anomalie congénitale du tractus gastro-intestinal\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia

\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\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
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Stomach finding\Lesion of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Stomach finding\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\constatation à propos d'une structure du tronc\affection du tronc\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
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\constatation à propos d'une structure du tronc\affection du tronc\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

\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Integumentary system finding\troubles tégumentaires\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\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia

\Disease\Genetic disease\maladie héréditaire\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\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Disease\affection dégénérative\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Disease\affection d'un système corporel\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\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Epidermolysis bullosa simplex with pyloric atresia
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Disease\affection d'un système corporel\troubles tégumentaires\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\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Epidermolysis bullosa simplex with pyloric atresia
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\anomalie congénitale du tractus gastro-intestinal\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\affection du tractus gastro-intestinal supérieur (trouble)\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\anomalie congénitale du tractus gastro-intestinal\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\affection du tractus gastro-intestinal supérieur (trouble)\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\affection d'un système corporel\maladie de l'appareil digestif\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\affection d'un système corporel\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\anomalie congénitale du tractus gastro-intestinal\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\affection du tronc\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\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of stomach\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\affection du tronc\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 malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\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 malformation\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 malformation\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 malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\anomalie congénitale du tractus gastro-intestinal\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Congenital disease\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 pyloric atresia
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Disease\trouble du développement\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex with pyloric atresia
\Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\trouble du développement\Congenital malformation\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\trouble du développement\Congenital malformation\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\trouble du développement\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\anomalie congénitale du tractus gastro-intestinal\Congenital anomaly of stomach\Gastric atresia\Pyloric atresia\Epidermolysis bullosa simplex with pyloric atresia
\Disease\trouble du développement\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 pyloric atresia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3307254018 Epidermolysis bullosa simplex co-occurrent with pyloric atresia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3307255017 Epidermolysis bullosa simplex co-occurrent with pyloric atresia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 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 pyloric atresia	morphologie associée (attribut)	Congenital atresia (morphologic abnormality)	true	Inferred relationship	Some	1
Epidermolysis bullosa simplex with pyloric atresia	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Epidermolysis bullosa simplex with pyloric atresia	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Epidermolysis bullosa simplex with pyloric atresia	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	2
Epidermolysis bullosa simplex with pyloric atresia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Epidermolysis bullosa simplex with pyloric atresia	morphologie associée (attribut)	Epidermolysis	true	Inferred relationship	Some	2
Epidermolysis bullosa simplex with pyloric atresia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Epidermolysis bullosa simplex with pyloric atresia	localisation d'une constatation (attribut)	Pyloric structure of stomach	true	Inferred relationship	Some	1
Epidermolysis bullosa simplex with pyloric atresia	est un(e) (attribut)	Autosomal recessive epidermolysis bullosa simplex	true	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	est un(e) (attribut)	Pyloric atresia	true	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	est un(e) (attribut)	Epidermolysis bullosa simplex	false	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	est un(e) (attribut)	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	est un(e) (attribut)	Digestive system hereditary disorder	true	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	est un(e) (attribut)	Hereditary disorder of the integument	false	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	localisation d'une constatation (attribut)	Connective tissue structure	false	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	5
Epidermolysis bullosa simplex with pyloric atresia	survenue (attribut)	congénital	false	Inferred relationship	Some	6
Epidermolysis bullosa simplex with pyloric atresia	morphologie associée (attribut)	Congenital atresia (morphologic abnormality)	false	Inferred relationship	Some	4
Epidermolysis bullosa simplex with pyloric atresia	survenue (attribut)	congénital	false	Inferred relationship	Some	4
Epidermolysis bullosa simplex with pyloric atresia	localisation d'une constatation (attribut)	Pyloric structure of stomach	false	Inferred relationship	Some	4
Epidermolysis bullosa simplex with pyloric atresia	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	6
Epidermolysis bullosa simplex with pyloric atresia	morphologie associée (attribut)	Epidermolysis	false	Inferred relationship	Some	5
Epidermolysis bullosa simplex with pyloric atresia	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3307251014	Epidermolysis bullosa simplex with pyloric atresia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307254018	Epidermolysis bullosa simplex co-occurrent with pyloric atresia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307255017	Epidermolysis bullosa simplex co-occurrent with pyloric atresia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core