1149069001: Juvenile polyposis syndrome with hereditary hemorrhagic telangiectasia (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Digestive system finding (finding)\masse d'une structure de l'appareil digestif\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \masse d'une structure corporelle\masse d'une structure de l'appareil digestif\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \constatation générale à propos des tissus mous\Blood vessel finding\Disorder of blood vessel (disorder)\Hereditary dysplasia of blood vessel (disorder)\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \constatation générale à propos des tissus mous\Blood vessel finding\Disorder of blood vessel (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\malformation artérioveineuse congénitale\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \constatation générale à propos des tissus mous\Blood vessel finding\Disorder of blood vessel (disorder)\télangiectasies\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\télangiectasies\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \constatation générale à propos des tissus mous\Disorder of soft tissue\Disorder of blood vessel (disorder)\Hereditary dysplasia of blood vessel (disorder)\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \constatation générale à propos des tissus mous\Disorder of soft tissue\Disorder of blood vessel (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\malformation artérioveineuse congénitale\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \constatation générale à propos des tissus mous\Disorder of soft tissue\Disorder of blood vessel (disorder)\télangiectasies\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\malformation artérioveineuse congénitale\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\malformation artérioveineuse congénitale\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Hereditary dysplasia of blood vessel (disorder)\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Disorder of blood vessel (disorder)\Hereditary dysplasia of blood vessel (disorder)\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Disorder of blood vessel (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\malformation artérioveineuse congénitale\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Disorder of blood vessel (disorder)\télangiectasies\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \constatation cardiovasculaire\Blood vessel finding\Disorder of blood vessel (disorder)\Hereditary dysplasia of blood vessel (disorder)\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \constatation cardiovasculaire\Blood vessel finding\Disorder of blood vessel (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\malformation artérioveineuse congénitale\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \constatation cardiovasculaire\Blood vessel finding\Disorder of blood vessel (disorder)\télangiectasies\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Cardiovascular system hereditary disorder\Hereditary dysplasia of blood vessel (disorder)\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Polyp (disorder)\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\néoplasme et/ou hamartome\Hamartoma (disorder)\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\affection d'un système corporel\Hereditary disorder by system\Cardiovascular system hereditary disorder\Hereditary dysplasia of blood vessel (disorder)\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\malformation artérioveineuse congénitale\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\malformation artérioveineuse congénitale\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Hereditary dysplasia of blood vessel (disorder)\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Disorder of blood vessel (disorder)\Hereditary dysplasia of blood vessel (disorder)\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Disorder of blood vessel (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\malformation artérioveineuse congénitale\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Disorder of blood vessel (disorder)\télangiectasies\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\malformation artérioveineuse congénitale\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\malformation artérioveineuse congénitale\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\malformation artérioveineuse congénitale\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Disorder of soft tissue\lésion de tissu mou\télangiectasies\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Hereditary dysplasia of blood vessel (disorder)\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\malformation artérioveineuse congénitale\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\télangiectasies\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\trouble du développement\Developmental hereditary disorder\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\malformation artérioveineuse congénitale\maladie de Rendu-Osler\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4553477010	Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4553478017	Juvenile polyposis syndrome with hereditary hemorrhagic telangiectasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4553479013	Juvenile polyposis syndrome with hereditary hemorrhagic telangiectasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4553482015	JP-HHT (juvenile polyposis with hereditary hemorrhagic telangiectasia) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4553483013	JP-HHT (juvenile polyposis with hereditary haemorrhagic telangiectasia) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4554534016	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4554535015	Syndrome with characteristics of co-occurrence of both juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia. Juvenile polyposis syndrome has characteristics of hamartomatous polyps occurring throughout the gastrointestinal tract. Hereditary haemorrhagic telangiectasia is characterised 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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