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702364003: Chylomicron retention disease (disorder)


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
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
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
912051000172116 CMRD - chylomicron retention disease fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
972181000172118 maladie de rétention des chylomicrons fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3411911001000116 Chylomikronen-Retentions-Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
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. Is a Autosomal recessive hereditary disorder true Inferred relationship Some
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. Is a Intestinal malabsorption of fat true Inferred relationship Some
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. Is a Digestive system hereditary disorder true Inferred relationship Some
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. Is a Disorder of digestive system specific to fetus OR newborn true Inferred relationship Some
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. Is a Familial hypobetalipoproteinemia true Inferred relationship Some
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. Occurrence Congenital true Inferred relationship Some 1
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. 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)

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