ORPHA:352309

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant 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	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
fr	Trouble de la synthèse des phospholipides, sphingolipides et acides gras avec atteinte prédominante des nerfs périphériques
de	Störung der Phospholipid-, Sphingolipid- und Fettsäure-Biosynthese mit vorwiegender Beteiligung der peripheren Nerven
es	Trastorno de la síntesis de fosfolípidos, esfingolípidos y ácidos grasos con afectación predominante de los nervios periféricos
it	Difetto della biosintesi di fosfolipidi, sfingolipidi e acidi grassi con coinvolgimento prevalente dei nervi periferici
nl	Stoornis van fosfolipiden-, sfingolipiden- en vetzuurbiosynthese met overwegend betrokkenheid van perifere zenuwen
pt	Doença dos fosfolipídios, esfingolipídios e biossíntese de ácidos gordos com comprometimento predominante dos nervos periféricos
pl	Zaburzenie biosyntezy fosfolipidów, sfingolipidów i kwasów tłuszczowych dotyczące głównie nerwów obwodowych
cs	Porucha biosyntézy fosfolipidů, sfingolipidů a mastných kyselin s predominantním poškozením periferních nervů
uk	Порушення біосинтезу фосфоліпідів, сфінголіпідів та жирних кислот з переважним залученням периферичних нервів
zh	磷脂、鞘脂和脂肪酸生物合成障碍以周围神经系统受累为主
tr	Periferik sinirlerin dominant tutulumu ile seyreden fosfolipidler, sfingolipidler ve yağ asitleri biyosentezindeki bozukluk

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
MONDO	18119	E		validated
UMLS	C5680992	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:352301Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
rare inborn errors of metabolism; rare genetic diseases

Children (2):

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/352309
This record as JSON: /data/d/352309.json