Refractory celiac disease
Synonyms: Refractory CD · Refractory sprue
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
Refractory celiac disease is a rare intestinal disease characterized by persistent or recurrent symptoms and signs of confirmed celiac disease despite a long-term, strict, gluten-free diet, in the absence of other causes of villous atrophy or malignant complications and with or without presence of increased abnormal intraepitelial lymphocytes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Refractory celiac disease | Refractory CD · Refractory sprue |
| fr | Maladie coeliaque réfractaire | Sprue réfractaire |
| de | Refraktäre Zöliakie | Refraktäre CD · Refraktäre Sprue |
| es | Enfermedad celíaca refractaria | CD refractaria · EC refractaria · Esprúe refractario |
| it | Celiachia refrattaria | CD refrattaria · Sprue refrattaria |
| nl | Refractaire coeliakie | Refractaire CD · Refractaire spruw |
| pt | Doença celíaca refractária | |
| pl | Oporna choroba trzewna | Oporna CD · Oporna celiakia |
| cs | Refrakterní celiakie | Refrakterní CD · Refrakterní sprue |
| uk | Рефрактерна целіакія | Рефракторний CD · Рефракторний спру |
| zh | 难治性乳糜泻病 | 难治性CD |
| tr | Refrakter çölyak hastalığı | Refrakter CD · Refrakter spru |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | K90.0 | NTBT | attributed | validated |
| ICD-11 | DA95 | NTBT | index | validated |
| MONDO | 0018353 | E | validated | |
| UMLS | C4749333 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:117569Rare intestinal disease
rare gastroenterological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 23609613[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
28 annotations · validated 2021-05-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0011473 | Villous atrophy | |
| Very frequent (99-80%) | ||
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0002853 | Increased proportion of HLA DR+ T cells | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002028 | Chronic diarrhea | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0003075 | Hypoproteinemia | |
| HP:0011123 | Inflammatory abnormality of the skin | |
| HP:0001891 | Iron deficiency anemia | |
| HP:0033143 | Jejunitis | |
| HP:0002024 | Malabsorption | |
| HP:0004395 | Malnutrition | |
| HP:0001935 | Microcytic anemia | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0025409 | Abnormal spleen physiology | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0002829 | Arthralgia | |
| HP:0010639 | Elevated alkaline phosphatase of bone origin | |
| HP:0002901 | Hypocalcemia | |
| HP:0002917 | Hypomagnesemia | |
| HP:0002148 | Hypophosphatemia | |
| HP:0012052 | Low serum calcitriol | |
| HP:0000939 | Osteoporosis | |
| HP:0002243 | Protein-losing enteropathy | |
| Very rare (<4-1%) | ||
| HP:0002665 | Lymphoma | |
| HP:0001972 | Macrocytic anemia | |
| HP:0001897 | Normocytic anemia | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 25925926[PMID]_31297187[PMID]_31331324[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/398063
- This record as JSON: /data/d/398063.json