ORPHA:309130

Disorder of carnitine cycle and carnitine transport

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	Disorder of carnitine cycle and carnitine transport
fr	Trouble du cycle de la carnitine et du transport de la carnitine
de	Carnitin-Stoffwechselstörung
es	Trastornos del ciclo de la carnitina y del transporte de la carnitina
it	Difetto del ciclo e del trasporto della carnitina
nl	Stoornis van carnitinecyclus en carnitinetransport
pt	Alteração do ciclo de carnitina e transporte de carnitina
pl	Zaburzenia cyklu karnitynowego i transportu karnityny
cs	Poruchy karnitinového cyklu a transportu karnitinu
uk	Порушення карнітинового циклу та транспорту карнітину
zh	肉碱循环-运输紊乱
tr	Karnitin döngüsü ve karnitin taşınmasında bozukluk

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-11	5C52.00	E	specific	validated
MONDO	0017716	E		validated
MONDO	17716	E		validated
UMLS	C5681080	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:79174Disorder of fatty acid oxidation and ketone body metabolism
rare inborn errors of metabolism; rare genetic diseases

Children (4):

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/309130
This record as JSON: /data/d/309130.json