21877004: Osler hemorrhagic telangiectasia syndrome (disorder)

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

\General finding of soft tissue\Blood vessel finding\Vascular disorder\Hereditary dysplasia of blood vessel (disorder)\Osler hemorrhagic telangiectasia syndrome
\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
\General finding of soft tissue\Blood vessel finding\Vascular disorder\Telangiectasia disorder\Osler hemorrhagic telangiectasia syndrome
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Telangiectasia disorder\Osler hemorrhagic telangiectasia syndrome
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Hereditary dysplasia of blood vessel (disorder)\Osler hemorrhagic telangiectasia syndrome
\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
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Telangiectasia disorder\Osler hemorrhagic telangiectasia syndrome

\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
\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
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Hereditary dysplasia of blood vessel (disorder)\Osler hemorrhagic telangiectasia syndrome
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Hereditary dysplasia of blood vessel (disorder)\Osler hemorrhagic telangiectasia syndrome
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Congenital arteriovenous malformation\Osler hemorrhagic telangiectasia syndrome
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Telangiectasia disorder\Osler hemorrhagic telangiectasia syndrome
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Hereditary dysplasia of blood vessel (disorder)\Osler hemorrhagic telangiectasia syndrome
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Congenital arteriovenous malformation\Osler hemorrhagic telangiectasia syndrome
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Telangiectasia disorder\Osler hemorrhagic telangiectasia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Hereditary dysplasia of blood vessel (disorder)\Osler hemorrhagic telangiectasia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osler hemorrhagic telangiectasia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\Osler hemorrhagic telangiectasia syndrome
\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
\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
\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
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Hereditary dysplasia of blood vessel (disorder)\Osler hemorrhagic telangiectasia syndrome
\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
\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
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Hereditary dysplasia of blood vessel (disorder)\Osler hemorrhagic telangiectasia syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Hereditary dysplasia of blood vessel (disorder)\Osler hemorrhagic telangiectasia syndrome
\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
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Telangiectasia disorder\Osler hemorrhagic telangiectasia syndrome
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Telangiectasia disorder\Osler hemorrhagic telangiectasia syndrome
\Disease\Disorder of soft tissue\Vascular disorder\Hereditary dysplasia of blood vessel (disorder)\Osler hemorrhagic telangiectasia syndrome
\Disease\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Congenital arteriovenous malformation\Osler hemorrhagic telangiectasia syndrome
\Disease\Disorder of soft tissue\Vascular disorder\Telangiectasia disorder\Osler hemorrhagic telangiectasia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Osler hemorrhagic telangiectasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Congenital arteriovenous malformation\Osler hemorrhagic telangiectasia syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osler hemorrhagic telangiectasia syndrome	Is a	Telangiectasia disorder	true	Inferred relationship	Some
Osler hemorrhagic telangiectasia syndrome	Is a	Congenital anomaly of integument	false	Inferred relationship	Some
Osler hemorrhagic telangiectasia syndrome	Is a	Skin lesion	false	Inferred relationship	Some
Osler hemorrhagic telangiectasia syndrome	Is a	Congenital hamartosis	false	Inferred relationship	Some
Osler hemorrhagic telangiectasia syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Osler hemorrhagic telangiectasia syndrome	Associated morphology	Telangiectasis	true	Inferred relationship	Some	1
Osler hemorrhagic telangiectasia syndrome	Finding site	Blood vessel structure (body structure)	false	Inferred relationship	Some
Osler hemorrhagic telangiectasia syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Osler hemorrhagic telangiectasia syndrome	Finding site	Peripheral vascular system structure (body structure)	false	Inferred relationship	Some
Osler hemorrhagic telangiectasia syndrome	Finding site	Microscopic skin vascular structure (body structure)	false	Inferred relationship	Some	1
Osler hemorrhagic telangiectasia syndrome	Associated morphology	Hamartoma	false	Inferred relationship	Some
Osler hemorrhagic telangiectasia syndrome	Finding site	Microscopic skin vascular structure (body structure)	false	Inferred relationship	Some	1
Osler hemorrhagic telangiectasia syndrome	Associated morphology	Telangiectasis	false	Inferred relationship	Some	1
Osler hemorrhagic telangiectasia syndrome	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Osler hemorrhagic telangiectasia syndrome	Is a	Hereditary dysplasia of blood vessel (disorder)	true	Inferred relationship	Some
Osler hemorrhagic telangiectasia syndrome	Is a	Congenital hamartoma (disorder)	false	Inferred relationship	Some
Osler hemorrhagic telangiectasia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Osler hemorrhagic telangiectasia syndrome	Associated morphology	Hamartoma	false	Inferred relationship	Some	2
Osler hemorrhagic telangiectasia syndrome	Is a	Skin lesion	false	Inferred relationship	Some
Osler hemorrhagic telangiectasia syndrome	Finding site	Blood vessel structure (body structure)	true	Inferred relationship	Some	3
Osler hemorrhagic telangiectasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Osler hemorrhagic telangiectasia syndrome	Associated morphology	Telangiectasis	false	Inferred relationship	Some	3
Osler hemorrhagic telangiectasia syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Osler hemorrhagic telangiectasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Osler hemorrhagic telangiectasia syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Osler hemorrhagic telangiectasia syndrome	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
Osler hemorrhagic telangiectasia syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osler hemorrhagic telangiectasia syndrome	Associated morphology	Arteriovenous malformation	true	Inferred relationship	Some	3
Osler hemorrhagic telangiectasia syndrome	Is a	Autosomal dominant hereditary disorder (disorder)	true	Inferred relationship	Some
Osler hemorrhagic telangiectasia syndrome	Is a	Congenital venous malformation of skin (disorder)	false	Inferred relationship	Some
Osler hemorrhagic telangiectasia syndrome	Is a	Congenital arteriovenous malformation	true	Inferred relationship	Some
Osler hemorrhagic telangiectasia syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Osler hemorrhagic telangiectasia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Osler hemorrhagic telangiectasia syndrome	Finding site	Blood vessel structure (body structure)	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	Osler hemorrhagic telangiectasia syndrome	Inferred relationship	Some
Hereditary hemorrhagic telangiectasia of gingiva	Is a	True	Osler hemorrhagic telangiectasia syndrome	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
36695013	Osler hemorrhagic telangiectasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
36696014	Osler-Weber-Rendu disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
36697017	Hereditary hemorrhagic telangiectasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
481146013	Osler-Rendu-Weber syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
481147016	Osler-Rendu-Weber disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
481148014	Osler haemorrhagic telangiectasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
481149018	Hereditary haemorrhagic telangiectasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
481150018	HHT - Hereditary haemorrhagic telangiectasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
481151019	HHT - Hereditary hemorrhagic telangiectasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
751221018	Osler hemorrhagic telangiectasia syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
920871000195116	sindrome da teleangectasia emorragica di Osler	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3394008012	maladie de Rendu-Osler	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
871041000195118	Morbus Rendu-Osler-Weber	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3390561001000113	Hereditäre hämorrhagische Teleangiektasie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module