(Q3043135)

English

congenital lactase deficiency

rare severe gastrointestinal disorder in newborns primarily reported in Finland

CLD
congenital alactasia
LACTASE DEFICIENCY, CONGENITAL
Disaccharide Intolerance 2
Alactasia, Congenital
COLACD

In more languages

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Statements

0 references

1 reference

A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe

carbohydrate metabolic disorder

1 reference

23 November 2020

disorder of carbohydrate absorption and transport

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0009115

congenital intestinal disease due to an enzymatic defect

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0009115

metabolic disease with intestinal involvement

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0009115

autosomal recessive disease

1 reference

23 November 2020

Finnish heritage disease

0 references

0 references

2 references

13 August 2019

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000115850/MONDO_0009115

based on heuristic

inferred from an Open Targets association score over 0.7

ICD-9-CM

271.3

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://purl.obolibrary.org/obo/DOID_0111646

1 reference

23 November 2020

http://identifiers.org/doid/DOID:0111646

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

Identifiers

MeSH descriptor ID

C562600

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

23 November 2020

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

5C61.61

Congenital lactase deficiency

0 references

Medical Dictionary for Regulatory Activities ID

10086148

1 reference

reference URL

https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx

based on heuristic

inferred by common ICD-10 mappings on Wikidata and on source

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

Sitelinks

Wikipedia(2 entries)

fiwiki Synnynnäinen laktaasinpuutos
frwiki Déficit congénital en lactase

(Q3043135)

congenital lactase deficiency

Statements

Identifiers

Sitelinks

Wikipedia(2 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)