ORPHA:618899
Acid sphingomyelinase deficiency
Synonyms: ASMD
- Type
- Clinical group
- 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.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acid sphingomyelinase deficiency | ASMD |
| fr | Déficit en sphingomyélinase acide | = en |
| de | Saure Sphingomyelinase-Mangel | = en |
| es | Deficiencia de esfingomielinasa ácida | = en |
| it | Deficit di sfingomielinasi acida | = en |
| nl | Deficiëntie van zure sfingomyelinase | = en |
| pt | Deficiência de esfingomielinase ácida | = en |
| pl | Niedobór kwaśnej sfingomielinazy | = en |
| cs | Deficit kyselé sfingomyelinázy | = en |
| uk | Дефіцит кислої сфінгомієлінази | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5243927 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:264992Genetic interstitial lung disease
rare genetic diseases - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases - ORPHA:264719Secondary interstitial lung disease specific to childhood associated with a metabolic disease
rare respiratory diseases; rare transplant-related disorders - ORPHA:79225Sphingolipidosis
rare inborn errors of metabolism; rare genetic diseases; rare transplant-related disorders
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/618899
- This record as JSON: /data/d/618899.json