Primary desmosis coli
Synonyms: Aplastic desmosis coli
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary desmosis coli | Aplastic desmosis coli |
| fr | Desmosis coli primaire | Desmosis coli aplasique |
| de | Desmosis coli, primäre | Desmosis coli, aplastische |
| es | Desmosis coli primaria | Desmosis coli aplásica |
| it | Desmosi primaria del colon | Desmosi colica aplastica |
| nl | Primaire desmosis coli | Aplastische desmosis coli |
| pt | Desmose colónica primária | |
| pl | Pierwotne desmosis coli | = en |
| cs | Primární desmosis coli | = en |
| uk | Первинна desmosis coli | Апластична десмотична паличка |
| zh | 原发性结肠结缔组织病 | 结肠结缔组织发育不全 |
| tr | Primer desmosis coli | Aplastik desmoz koli |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q43.2 | NTBT | attributed | validated |
| ICD-11 | DB32.Y | NTBT | attributed | validated |
| MONDO | 0034846 | E | validated | |
| UMLS | C5680125 | 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
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/565641
- This record as JSON: /data/d/565641.json