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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Juvenile polyposis syndrome\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.
• \Digestive system finding (finding)\Mass of digestive structure\Juvenile polyposis syndrome\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.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder\Juvenile polyposis syndrome\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.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Juvenile polyposis syndrome\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.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\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.
• \Mass of body structure\Mass of digestive structure\Juvenile polyposis syndrome\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.
• \General finding of soft tissue\Blood vessel finding\Vascular disorder\Hereditary dysplasia of blood vessel (disorder)\Osler hemorrhagic telangiectasia syndrome\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.
• \General finding of soft tissue\Blood vessel finding\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Congenital arteriovenous malformation\Osler hemorrhagic telangiectasia syndrome\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.
• \General finding of soft tissue\Blood vessel finding\Vascular disorder\Telangiectasia disorder\Osler hemorrhagic telangiectasia syndrome\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.
• \General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Telangiectasia disorder\Osler hemorrhagic telangiectasia syndrome\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.
• \General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Hereditary dysplasia of blood vessel (disorder)\Osler hemorrhagic telangiectasia syndrome\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.
• \General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Congenital arteriovenous malformation\Osler hemorrhagic telangiectasia syndrome\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.
• \General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Telangiectasia disorder\Osler hemorrhagic telangiectasia syndrome\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.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Congenital arteriovenous malformation\Osler hemorrhagic telangiectasia syndrome\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.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Congenital arteriovenous malformation\Osler hemorrhagic telangiectasia syndrome\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.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Hereditary dysplasia of blood vessel (disorder)\Osler hemorrhagic telangiectasia syndrome\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.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Hereditary dysplasia of blood vessel (disorder)\Osler hemorrhagic telangiectasia syndrome\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.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Congenital arteriovenous malformation\Osler hemorrhagic telangiectasia syndrome\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.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Telangiectasia disorder\Osler hemorrhagic telangiectasia syndrome\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.
• \Cardiovascular finding\Blood vessel finding\Vascular disorder\Hereditary dysplasia of blood vessel (disorder)\Osler hemorrhagic telangiectasia syndrome\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.
• \Cardiovascular finding\Blood vessel finding\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Congenital arteriovenous malformation\Osler hemorrhagic telangiectasia syndrome\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.
• \Cardiovascular finding\Blood vessel finding\Vascular disorder\Telangiectasia disorder\Osler hemorrhagic telangiectasia syndrome\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.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Juvenile polyposis syndrome\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.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Hereditary dysplasia of blood vessel (disorder)\Osler hemorrhagic telangiectasia syndrome\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.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osler hemorrhagic telangiectasia syndrome\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.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\Osler hemorrhagic telangiectasia syndrome\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.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\Juvenile polyposis syndrome\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.
• \Disease\Polyp (disorder)\Juvenile polyposis syndrome\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.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Congenital arteriovenous malformation\Osler hemorrhagic telangiectasia syndrome\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.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Congenital arteriovenous malformation\Osler hemorrhagic telangiectasia syndrome\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.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Congenital arteriovenous malformation\Osler hemorrhagic telangiectasia syndrome\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.
• \Disease\Fetal and/or neonatal disorder\Disorder of digestive system specific to fetus OR newborn\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.
• \Disease\Neoplasm and/or hamartoma (disorder)\Hamartoma (disorder)\Juvenile polyposis syndrome\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.
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Juvenile polyposis syndrome\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.
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Hereditary dysplasia of blood vessel (disorder)\Osler hemorrhagic telangiectasia syndrome\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.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder\Juvenile polyposis syndrome\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.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Juvenile polyposis syndrome\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.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\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.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Congenital arteriovenous malformation\Osler hemorrhagic telangiectasia syndrome\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.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Congenital arteriovenous malformation\Osler hemorrhagic telangiectasia syndrome\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.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Hereditary dysplasia of blood vessel (disorder)\Osler hemorrhagic telangiectasia syndrome\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.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Hereditary dysplasia of blood vessel (disorder)\Osler hemorrhagic telangiectasia syndrome\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.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Congenital arteriovenous malformation\Osler hemorrhagic telangiectasia syndrome\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.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Telangiectasia disorder\Osler hemorrhagic telangiectasia syndrome\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.
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Telangiectasia disorder\Osler hemorrhagic telangiectasia syndrome\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.
• \Disease\Disorder of soft tissue\Vascular disorder\Hereditary dysplasia of blood vessel (disorder)\Osler hemorrhagic telangiectasia syndrome\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.
• \Disease\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Congenital arteriovenous malformation\Osler hemorrhagic telangiectasia syndrome\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.
• \Disease\Disorder of soft tissue\Vascular disorder\Telangiectasia disorder\Osler hemorrhagic telangiectasia syndrome\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.
• \Disease\Developmental disorder\Developmental hereditary disorder\Osler hemorrhagic telangiectasia syndrome\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.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Congenital arteriovenous malformation\Osler hemorrhagic telangiectasia syndrome\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.

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
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
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
6368141000241117	syndrome de polypose juvénile avec télangiectasie hémorragique héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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