5388008: Congenital lactase deficiency (disorder)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital lactase deficiency

\Metabolic disease\Enzymopathy\Congenital lactase deficiency
\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of carbohydrate absorption\Lactase deficiency\Congenital lactase deficiency

\Congenital disease (disorder)\Congenital lactase deficiency

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

10012014 Congenital lactase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

10013016 Congenital lactose intolerance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

10014010 Congenital lactose malabsorption en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

10015011 Congenital alactasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

10016012 Disaccharide intolerance II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

792049011 Congenital lactase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1231260013 Congenital alactasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1231261012 CLD - Congenital lactase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

937061000052118 medfödd laktasbrist sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital lactase deficiency	Is a	Syndrome of carbohydrate intolerance	false	Inferred relationship	Some
Congenital lactase deficiency	Is a	laktosintolerans	false	Inferred relationship	Some
Congenital lactase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital lactase deficiency	Is a	Enzymopathy	true	Inferred relationship	Some
Congenital lactase deficiency	Is a	Digestive system hereditary disorder (disorder)	false	Inferred relationship	Some
Congenital lactase deficiency	Is a	Malabsorption syndrome	false	Inferred relationship	Some
Congenital lactase deficiency	Finding site	Structure of small intestine (body structure)	false	Inferred relationship	Some
Congenital lactase deficiency	Is a	Lactase deficiency	true	Inferred relationship	Some
Congenital lactase deficiency	Finding site	Intestinal structure	false	Inferred relationship	Some
Congenital lactase deficiency	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
Congenital lactase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Intolerance to lactose due to congenital lactase deficiency (finding)	Due to	True	Congenital lactase deficiency	Inferred relationship	Some	1

This concept is not in any reference sets