702364003: Chylomicron retention disease (disorder)

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

\Viscus structure finding (finding)\Abdominal organ finding\Bowel finding\...

\Finding of small intestine\Disorder of small intestine\Intestinal malabsorption\Intestinal malabsorption of fat\Chylomicron retention disease

\Disorder of intestine\Disorder of small intestine\Intestinal malabsorption\Intestinal malabsorption of fat\Chylomicron retention disease

\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Finding of small intestine\Disorder of small intestine\Intestinal malabsorption\Intestinal malabsorption of fat\Chylomicron retention disease
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Disorder of intestine\Disorder of small intestine\Intestinal malabsorption\Intestinal malabsorption of fat\Chylomicron retention disease
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Disorder of small intestine\Intestinal malabsorption\Intestinal malabsorption of fat\Chylomicron retention disease
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Malabsorption syndrome\Intestinal malabsorption\Intestinal malabsorption of fat\Chylomicron retention disease
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Chylomicron retention disease
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Disorder of small intestine\Intestinal malabsorption\Intestinal malabsorption of fat\Chylomicron retention disease
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Malabsorption syndrome\Intestinal malabsorption\Intestinal malabsorption of fat\Chylomicron retention disease
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Disorder of small intestine\Intestinal malabsorption\Intestinal malabsorption of fat\Chylomicron retention disease
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Chylomicron retention disease

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Disorder of small intestine\Intestinal malabsorption\Intestinal malabsorption of fat\Chylomicron retention disease
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Bowel finding\Finding of small intestine\Disorder of small intestine\Intestinal malabsorption\Intestinal malabsorption of fat\Chylomicron retention disease
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Bowel finding\Disorder of intestine\Disorder of small intestine\Intestinal malabsorption\Intestinal malabsorption of fat\Chylomicron retention disease
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of intestine\Disorder of small intestine\Intestinal malabsorption\Intestinal malabsorption of fat\Chylomicron retention disease
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Disorder of small intestine\Intestinal malabsorption\Intestinal malabsorption of fat\Chylomicron retention disease

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inborn error of lipoprotein metabolism\Familial lipoprotein deficiency\Familial hypobetalipoproteinemia\Chylomicron retention disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Chylomicron retention disease
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Chylomicron retention disease
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Inborn error of metabolism\Inborn error of lipoprotein metabolism\Familial lipoprotein deficiency\Familial hypobetalipoproteinemia\Chylomicron retention disease
\Disease\Fetal and/or neonatal disorder\Disorder of digestive system specific to fetus OR newborn\Chylomicron retention disease
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Chylomicron retention disease
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Chylomicron retention disease
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Disorder of small intestine\Intestinal malabsorption\Intestinal malabsorption of fat\Chylomicron retention disease
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Malabsorption syndrome\Intestinal malabsorption\Intestinal malabsorption of fat\Chylomicron retention disease
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Disorder of small intestine\Intestinal malabsorption\Intestinal malabsorption of fat\Chylomicron retention disease
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Chylomicron retention disease
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Disorder of small intestine\Intestinal malabsorption\Intestinal malabsorption of fat\Chylomicron retention disease
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inborn error of lipoprotein metabolism\Familial lipoprotein deficiency\Familial hypobetalipoproteinemia\Chylomicron retention disease
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipoprotein deficiency disorder\Familial hypobetalipoproteinemia\Chylomicron retention disease
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Inborn error of lipoprotein metabolism\Familial lipoprotein deficiency\Familial hypobetalipoproteinemia\Chylomicron retention disease

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2995184011 Chylomicron retention disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995232014 Lipid transport defect of intestine en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995490019 Chylomicron retention disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995599016 Anderson syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995972013 An autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5453972013 Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5453973015 Chylomicron retention disease (CRD) is a type of familial hypocholesterolaemia characterised by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chylomicron retention disease	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Chylomicron retention disease	Is a	Intestinal malabsorption of fat	true	Inferred relationship	Some
Chylomicron retention disease	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Chylomicron retention disease	Is a	Disorder of digestive system specific to fetus OR newborn	true	Inferred relationship	Some
Chylomicron retention disease	Is a	Familial hypobetalipoproteinemia	true	Inferred relationship	Some
Chylomicron retention disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Chylomicron retention disease	Finding site	Structure of small intestine (body structure)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2995184011	Chylomicron retention disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995232014	Lipid transport defect of intestine	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995490019	Chylomicron retention disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995599016	Anderson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995972013	An autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5453972013	Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5453973015	Chylomicron retention disease (CRD) is a type of familial hypocholesterolaemia characterised by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core