ORPHA:371188

Congenital disorder of glycosylation with intestinal involvement

Synonyms: CDG with intestinal involvement

Type: Category
Group: Group of disorders
Status: active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Congenital disorder of glycosylation with intestinal involvement	CDG with intestinal involvement
fr	Anomalie congénitale de la glycosylation avec atteinte intestinale	CDG avec atteinte intestinale
de	Kongenitale Glykosylierungsstörung mit intestinaler Beteiligung	CDG mit Darmbeteiligung
es	Trastorno congénito de la glicosilación con afectación intestinal	CDG con afectación intestinal
it	Disturbo congenito della glicosilazione con coinvolgimento intestinale	CDG con coinvolgimento intestinale
nl	Congenitale glycosylatiestoornis met intestinale betrokkenheid	CDG met intestinale betrokkenheid
pt	Doença congénita de glicosilação com envolvimento intestinal
pl	Wrodzone zaburzenie glikozylacji z udziałem jelit	CDG z udziałem jelit
cs	Vrozená porucha glykosylace s postižením střeva	CDG s postižením střeva
uk	Вроджене порушення глікозилювання з ураженням кишечника	CDG із залученням кишківника
zh	先天性糖基化障碍伴肠受累	CDG伴小肠受累
tr	Bağırsak tutulumu ile seyreden doğumsal glikozilasyon bozukluğu	Bağırsak tutulumu ile seyreden CDG

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
MONDO	18291	E		validated
UMLS	C5679909	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:68367Rare inborn error of metabolism

Parents in the classifications (1):

ORPHA:104013Metabolic disease with intestinal involvement
rare gastroenterological diseases; rare genetic diseases

Children (3):

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/371188
This record as JSON: /data/d/371188.json