ORPHA:309331

Intermediate severe Salla disease

This disease is described under Free sialic acid storage disease

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Intermediate severe Salla disease
fr	Maladie de Salla sévère intermédiaire
de	Salla disease, intermediäre schwere
es	Enfermedad de Salla intermedia grave
it	Malattia di Salla grave intermedia
nl	Intermediaire ernstige ziekte van Salla
pt	Doença de Salla de gravidade intermédia
pl	Pośrednia ciężka choroba Salla
cs	Nemoc Salla, středně těžká
uk	Хвороба Салла середнього ступеня тяжкості
zh	中度重型唾液酸贮积病
tr	Orta şiddetli Salla hastalığı

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	604369	NTBT		validated
ICD-10	E77.8	NTBT	attributed	validated
ICD-11	5C56.4	NTBT	attributed	validated
MONDO	0017737	E		validated
UMLS	C5681076	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:834Free sialic acid storage disease
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
SLC17A5	Disease-causing germline mutation(s) in	Assessed	HGNC:10933	ENSG00000119899	604322	6q13	solute carrier family 17 member 5	20301643[PMID]

0 records

No prevalence record in this release.

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