ORPHA:556
Malakoplakia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adult
- Status
- active
Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Malakoplakia | |
| fr | Malakoplakie | |
| de | Malakoplasie | |
| es | Malacoplaquia | |
| it | Malacoplachia | |
| nl | Malakoplakie | |
| pt | Malacoplaquia | |
| pl | Malakoplakia | |
| cs | Malakoplakie | |
| uk | Малакоплакія | |
| zh | 软斑病 | |
| tr | Malakoplaki |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | N28.8 | ND | index | validated |
| ICD-10 | N32.8 | ND | index | validated |
| ICD-10 | N36.8 | ND | index | validated |
| ICD-11 | EL3Y | BTNT | index | validated |
| ICD-11 | GC01.Y | BTNT | index | validated |
| ICD-11 | GC0Y | BTNT | index | validated |
| MONDO | 0018913 | E | validated | |
| MeSH | D008287 | E | validated | |
| UMLS | C0024525 | E | validated | |
| GARD | 6960 | E | validated | |
| MedDRA | 10080344 | 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 (1):
- ORPHA:117569Rare intestinal disease
rare gastroenterological diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
27 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001892 | Abnormal bleeding | |
| HP:0000140 | Abnormality of the menstrual cycle | |
| HP:0002014 | Diarrhea | |
| HP:0100518 | Dysuria | |
| HP:0001945 | Fever | |
| HP:0000790 | Hematuria | |
| HP:0011123 | Inflammatory abnormality of the skin | |
| HP:0200034 | Papule | |
| HP:0000093 | Proteinuria | |
| HP:0000989 | Pruritus | |
| HP:0000988 | Skin rash | |
| HP:0200042 | Skin ulcer | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0100577 | Urinary bladder inflammation | |
| HP:0000019 | Urinary hesitancy | |
| HP:0000012 | Urinary urgency | |
| Frequent (79-30%) | ||
| HP:0002729 | Follicular hyperplasia | |
| HP:0002721 | Immunodeficiency | |
| Occasional (29-5%) | ||
| HP:0000464 | Abnormality of the neck | |
| HP:0000157 | Abnormality of the tongue | |
| HP:0100749 | Chest pain | |
| HP:0012735 | Cough | |
| HP:0100273 | Neoplasm of the colon | |
| HP:0100743 | Neoplasm of the rectum | |
| HP:0100796 | Orchitis | |
| HP:0100787 | Prostate neoplasm | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/556
- This record as JSON: /data/d/556.json