ORPHA:86

Familial abdominal aortic aneurysm

Orphadata ships no English definition for this code.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Familial abdominal aortic aneurysm
fr	Anévrisme familial de l'aorte abdominale
de	Aortenaneurysma, abdominales, familiäre Form
es	Aneurisma de la aorta abdominal, forma familiar
it	Aneurisma dell'aorta addominale, forma familiare
nl	Familiaal abdominaal aorta-aneurysma
pt	Aneurisma aórtico abdominal familiar
pl	Rodzinny tętniak aorty brzusznej
cs	Familiární aneuryzma břišní aorty
uk	Сімейна аневризма черевної аорти
zh	家族性腹主动脉瘤
tr	Ailesel abdominal aort anevrizması

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	100070	E		validated
OMIM	609782	BTNT		validated
OMIM	611891	BTNT		validated
OMIM	614375	BTNT		validated
ICD-10	I71.4	NTBT	attributed	validated
ICD-11	BD50.4Z	NTBT	index	validated
MONDO	0007031	E		validated
UMLS	C4275172	E		validated
GARD	9181	E		validated

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

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:233655Rare genetic vascular disease
rare genetic diseases; rare circulatory system diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
COL3A1	Major susceptibility factor in	Assessed	HGNC:2201	ENSG00000168542	120180	2q32.2	collagen type III alpha 1 chain	2243125[PMID]_10388642[PMID]

0 records

No prevalence record in this release.

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