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9273005: Juvenile polyposis syndrome (disorder)

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

\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Juvenile polyposis syndrome
\Digestive system finding (finding)\Mass of digestive structure\Juvenile polyposis syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder\Juvenile polyposis syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Juvenile polyposis syndrome

\Mass of body structure\Mass of digestive structure\Juvenile polyposis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Juvenile polyposis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Juvenile polyposis syndrome
\Disease\Polyp (disorder)\Juvenile polyposis syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Hamartoma (disorder)\Juvenile polyposis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Juvenile polyposis syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder\Juvenile polyposis syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Juvenile polyposis syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2010. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Juvenile polyposis syndrome	Is a	Intestinal polyposis syndrome	false	Inferred relationship	Some
Juvenile polyposis syndrome	Is a	Disorder of large intestine	false	Inferred relationship	Some
Juvenile polyposis syndrome	Finding site	Structure of large intestine (body structure)	false	Inferred relationship	Some	1
Juvenile polyposis syndrome	Associated morphology	Hamartomatous polyp	false	Inferred relationship	Some	1
Juvenile polyposis syndrome	Associated morphology	Multiple polyps	false	Inferred relationship	Some	1
Juvenile polyposis syndrome	Is a	Hamartoma (disorder)	true	Inferred relationship	Some
Juvenile polyposis syndrome	Is a	Polyp of large intestine (disorder)	false	Inferred relationship	Some
Juvenile polyposis syndrome	Is a	Hamartoma of intestine	false	Inferred relationship	Some
Juvenile polyposis syndrome	Associated morphology	Multiple polyps	false	Inferred relationship	Some	1
Juvenile polyposis syndrome	Finding site	Structure of large intestine (body structure)	false	Inferred relationship	Some	1
Juvenile polyposis syndrome	Associated morphology	Hamartomatous polyp	false	Inferred relationship	Some	1
Juvenile polyposis syndrome	Is a	Hamartomatous polyp of large intestine (disorder)	false	Inferred relationship	Some
Juvenile polyposis syndrome	Associated morphology	Multiple polyps	false	Inferred relationship	Some	2
Juvenile polyposis syndrome	Finding site	Structure of large intestine (body structure)	false	Inferred relationship	Some	2
Juvenile polyposis syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Juvenile polyposis syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Juvenile polyposis syndrome	Is a	Polyp (disorder)	true	Inferred relationship	Some
Juvenile polyposis syndrome	Is a	Mass of digestive structure	true	Inferred relationship	Some
Juvenile polyposis syndrome	Is a	Disorder of gastrointestinal tract (disorder)	true	Inferred relationship	Some
Juvenile polyposis syndrome	Finding site	Oesophagus, stomach, small intestine and large intestine together as a single entity.	true	Inferred relationship	Some	1
Juvenile polyposis syndrome	Associated morphology	Multiple hamartomatous polyps	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Syndrome with characteristics of co-occurrence of both juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. Juvenile polyposis syndrome has characteristics of hamartomatous polyps occurring throughout the gastrointestinal tract. Hereditary hemorrhagic telangiectasia is characterized by vascular dysplasia with telangiectases of the skin, oral and nasal mucosa and arteriovenous malformation of the lungs, liver, brain and gastrointestinal tract. The syndrome is caused by heterozygous mutation in the SMAD4 gene on chromosome 18q21.	Is a	True	Juvenile polyposis syndrome	Inferred relationship	Some
Juvenile polyposis of infancy (disorder)	Is a	True	Juvenile polyposis syndrome	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
16287010	Juvenile polyposis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
16288017	Retention polyps of large bowel	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
16289013	Juvenile polyps of large bowel	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
510085010	Juvenile polyposis of intestine	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
836316010	Juvenile polyposis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1432451000005115	Juvenilt polyposissyndrom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)