149931000146103: juveniele polyposis door mutatie in 'bone morphogenetic protein receptor type IA' (aandoening)

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

\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Juvenile polyposis syndrome (disorder)\Juvenile polyposis syndrome due to bone morphogenetic protein receptor type IA mutation
\Digestive system finding (finding)\Mass of digestive structure\Juvenile polyposis syndrome (disorder)\Juvenile polyposis syndrome due to bone morphogenetic protein receptor type IA mutation
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Juvenile polyposis syndrome (disorder)\Juvenile polyposis syndrome due to bone morphogenetic protein receptor type IA mutation
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Juvenile polyposis syndrome (disorder)\Juvenile polyposis syndrome due to bone morphogenetic protein receptor type IA mutation

\Mass of body structure\Mass of digestive structure\Juvenile polyposis syndrome (disorder)\Juvenile polyposis syndrome due to bone morphogenetic protein receptor type IA mutation

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Juvenile polyposis syndrome (disorder)\Juvenile polyposis syndrome due to bone morphogenetic protein receptor type IA mutation
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Juvenile polyposis syndrome (disorder)\Juvenile polyposis syndrome due to bone morphogenetic protein receptor type IA mutation
\Disease\Polyp (disorder)\Juvenile polyposis syndrome (disorder)\Juvenile polyposis syndrome due to bone morphogenetic protein receptor type IA mutation
\Disease\Neoplasm and/or hamartoma (disorder)\Hamartoma (disorder)\Juvenile polyposis syndrome (disorder)\Juvenile polyposis syndrome due to bone morphogenetic protein receptor type IA mutation
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Juvenile polyposis syndrome (disorder)\Juvenile polyposis syndrome due to bone morphogenetic protein receptor type IA mutation
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Juvenile polyposis syndrome (disorder)\Juvenile polyposis syndrome due to bone morphogenetic protein receptor type IA mutation
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Juvenile polyposis syndrome (disorder)\Juvenile polyposis syndrome due to bone morphogenetic protein receptor type IA mutation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Juvenile polyposis syndrome due to bone morphogenetic protein receptor type IA mutation	Associated morphology	Multiple hamartomatous polyps	true	Inferred relationship	Some	1
Juvenile polyposis syndrome due to bone morphogenetic protein receptor type IA mutation	Finding site	Gastrointestinal tract structure	true	Inferred relationship	Some	1
Juvenile polyposis syndrome due to bone morphogenetic protein receptor type IA mutation	Is a	Juvenile polyposis syndrome (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
12704771000146119	Juvenile polyposis due to BMPR1A mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12704811000146119	Juvenile polyposis syndrome due to bone morphogenetic protein receptor type IA mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12704821000146112	Juvenile polyposis syndrome due to bone morphogenetic protein receptor type IA mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12759571000146115	juveniele polyposis door BMPR1A-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12759581000146118	juveniele polyposis door mutatie in 'bone morphogenetic protein receptor type IA'	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12759591000146116	juveniele polyposis door mutatie in 'bone morphogenetic protein receptor type IA' (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)