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


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
5401374019 A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401375018 A rare, inherited, epidermolysis bullosa simplex characterised by generalised severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anaemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Epidermolysis bullosa simplex with 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 Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Epidermolysis bullosa simplex with pyloric atresia Is a Digestive system hereditary disorder (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 anomaly false Inferred relationship Some 6
Epidermolysis bullosa simplex with pyloric atresia Associated morphology Congenital atresia false 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 (attribute) 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 (attribute) 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 Associated morphology Atresia (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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