ORPHA:645297

Extramedullary conus spinal cord lipoma

Type: Morphological anomaly
Group: Disorder
Inheritance: Unknown
Status: active

A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Extramedullary conus spinal cord lipoma
fr	Lipome spinal extramédullaire du cône
de	Extramedulläres Lipom des Conus spinalis
es	Lipoma espinal del cono extramedular
it	Lipoma spinale extramidollare del cono
nl	Extramedullair lipoom van conus medullaris
pt	Lipoma extramedular do cone medular
pl	Tłuszczak zewnątrzrdzeniowy stożka rdzenia kręgowego
cs	Extramedulární lipom konusu míšního
uk	Екстрамедулярна конусоподібна ліпома спинного мозку

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q06.8	NTBT	attributed	validated
MONDO	0968987	E		validated
MONDO	968987	E		validated
UMLS	C5816726	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:93890Rare developmental defect during embryogenesis

Parents in the classifications (1):

ORPHA:645367Conus spinal cord lipoma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological 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/645297
This record as JSON: /data/d/645297.json