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

• SNOMED CT Concept\Clinical finding\...
• \Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Digestive system finding\Mass of digestive structure\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Mass of body structure\Mass of digestive structure\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \General finding of soft tissue\Blood vessel finding\Vascular disorder\Hereditary dysplasia of blood vessel\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \General finding of soft tissue\Blood vessel finding\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital arteriovenous malformation\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \General finding of soft tissue\Blood vessel finding\Vascular disorder\Telangiectasia disorder\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Telangiectasia disorder\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Hereditary dysplasia of blood vessel\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital arteriovenous malformation\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Telangiectasia disorder\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital arteriovenous malformation\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Congenital arteriovenous malformation\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Hereditary dysplasia of blood vessel\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Cardiovascular finding\Cardiovascular disease\Vascular disorder\Hereditary dysplasia of blood vessel\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Cardiovascular finding\Cardiovascular disease\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital arteriovenous malformation\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Cardiovascular finding\Cardiovascular disease\Vascular disorder\Telangiectasia disorder\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Cardiovascular finding\Blood vessel finding\Vascular disorder\Hereditary dysplasia of blood vessel\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Cardiovascular finding\Blood vessel finding\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital arteriovenous malformation\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Cardiovascular finding\Blood vessel finding\Vascular disorder\Telangiectasia disorder\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Hereditary dysplasia of blood vessel\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Polyp\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Neoplasm and/or hamartoma\Hamartoma\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Hereditary dysplasia of blood vessel\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Juvenile polyposis syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital arteriovenous malformation\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Congenital arteriovenous malformation\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Hereditary dysplasia of blood vessel\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Disorder of body system\Cardiovascular disease\Vascular disorder\Hereditary dysplasia of blood vessel\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Disorder of body system\Cardiovascular disease\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital arteriovenous malformation\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Disorder of body system\Cardiovascular disease\Vascular disorder\Telangiectasia disorder\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Congenital disease\Congenital cardiovascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital arteriovenous malformation\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Congenital arteriovenous malformation\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Congenital arteriovenous malformation\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Disorder of soft tissue\Soft tissue lesion\Telangiectasia disorder\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Disorder of soft tissue\Vascular disorder\Hereditary dysplasia of blood vessel\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital arteriovenous malformation\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Disorder of soft tissue\Vascular disorder\Telangiectasia disorder\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Developmental disorder\Developmental hereditary disorder\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Congenital arteriovenous malformation\Osler haemorrhagic telangiectasia syndrome\Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia

Status: current, Primitive. 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	Active	Case insensitive	SNOMED CT core
4553478017	Juvenile polyposis syndrome with hereditary hemorrhagic telangiectasia	en	Synonym	Active	Case insensitive	SNOMED CT core
4553479013	Juvenile polyposis syndrome with hereditary hemorrhagic telangiectasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4553482015	JP-HHT (juvenile polyposis with hereditary hemorrhagic telangiectasia) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4553483013	JP-HHT (juvenile polyposis with hereditary haemorrhagic telangiectasia) syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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