ORPHA:79387
Metabolic disease with skin involvement
- 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 | Metabolic disease with skin involvement | |
| fr | Maladie métabolique avec atteinte cutanée | |
| de | Hautkrankheit, metabolische | |
| es | Enfermedad metabólica con afectación cutánea | |
| it | Malattia cutanea metabolica | |
| nl | Stofwisselingsstoornis met betrokkenheid van huid | |
| pt | Doença metabólica com envolvimento da pele | |
| pl | Choroba metaboliczna z zajęciem skóry | |
| cs | Metabolické onemocnění s postižením kůže | |
| uk | Метаболічні захворювання з ураженням шкіри | |
| zh | 代谢疾病伴皮肤受累 | |
| tr | Deri tutulumu ile seyreden metabolik hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 19301 | E | validated | |
| UMLS | C5681475 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:68346Rare genetic skin disease
rare genetic diseases - ORPHA:89826Rare skin disease
rare skin diseases
Children (9):
- ORPHA:37Acrodermatitis enteropathica
- ORPHA:56Alkaptonuria
- ORPHA:371200Congenital disorder of glycosylation with skin involvement
- ORPHA:251523Hyperzincemia and hypercalprotectinemia
- ORPHA:79388Mucopolysaccharidosis with skin involvement
- ORPHA:148Multiple carboxylase deficiency
- ORPHA:79217Other metabolic disease with skin involvement
- ORPHA:738Porphyria
- ORPHA:742Prolidase deficiency
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/79387
- This record as JSON: /data/d/79387.json