ORPHA:79212
Mucolipidosis
- 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mucolipidosis | |
| fr | Mucolipidose | |
| de | Mukolipidose | |
| es | Mucolipidosis | |
| it | Mucolipidosi | |
| nl | Mucolipidose | |
| pt | Mucolipidose | |
| pl | Mukolipidoza | |
| cs | Mukolipidóza | |
| uk | Муколіпідоз | |
| zh | 黏脂贮积症 | |
| tr | Mukolipidoz |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C56.20 | E | specific | validated |
| MONDO | 0019248 | E | validated | |
| MONDO | 19248 | E | validated | |
| MeSH | D009081 | E | validated | |
| UMLS | C0026697 | E | validated | |
| MedDRA | 10072939 | 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 (2):
- ORPHA:139009Developmental anomaly of metabolic origin
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:309279Glycoproteinosis
rare inborn errors of metabolism; rare genetic diseases
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79212
- This record as JSON: /data/d/79212.json