5388008: Congenital lactase deficiency (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital lactase deficiency

\trouble métabolique\Enzymopathy\Congenital lactase deficiency
\trouble métabolique\Disorder of carbohydrate metabolism\Disorder of carbohydrate absorption\Lactase deficiency\Congenital lactase deficiency

\Congenital disease\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

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

66801000077113 déficit congénital en lactase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

688981000077117 déficit congénital en lactase (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital lactase deficiency	est un(e) (attribut)	Lactase deficiency	true	Inferred relationship	Some
Congenital lactase deficiency	localisation d'une constatation (attribut)	intestins	false	Inferred relationship	Some
Congenital lactase deficiency	est un(e) (attribut)	Syndrome of carbohydrate intolerance	false	Inferred relationship	Some
Congenital lactase deficiency	est un(e) (attribut)	Lactose intolerance	false	Inferred relationship	Some
Congenital lactase deficiency	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital lactase deficiency	est un(e) (attribut)	Enzymopathy	true	Inferred relationship	Some
Congenital lactase deficiency	est un(e) (attribut)	Digestive system hereditary disorder	false	Inferred relationship	Some
Congenital lactase deficiency	est un(e) (attribut)	syndrome de malabsorption	false	Inferred relationship	Some
Congenital lactase deficiency	est un(e) (attribut)	Congenital disease	true	Inferred relationship	Some
Congenital lactase deficiency	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Congenital lactase deficiency	localisation d'une constatation (attribut)	Structure of small intestine (body structure)	false	Inferred relationship	Some

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