ORPHA:104009
Rare disease involving intestinal motility
- 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 | Rare disease involving intestinal motility | |
| fr | Maladie rare liée à la motilité intestinale | |
| de | Intestinale Motilitätsstörungen, kongenitale | |
| es | Enfermedad rara con afectación de la motilidad intestinal | |
| it | Disturbo congenito della motilità intestinale | |
| nl | Congenitale darmmotiliteitstoornis | |
| pt | Doença da motilidade intestinal rara | |
| pl | Wrodzone zaburzenia motoryki jelit | |
| cs | Vzácná postižení střevní motility | |
| uk | Рідкісне захворювання, повязане з моторикою кишечника | |
| zh | 累及肠运动的罕见疾病 | |
| tr | Bağırsak hareketliliğini içeren nadir hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15184 | E | validated | |
| UMLS | C5681742 | E | validated | |
| GARD | 19846 | 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 (3):
- ORPHA:165655Genetic intestinal disease
rare genetic diseases - ORPHA:506216Rare disorder potentially indicated for bowel transplant
rare transplant-related disorders - ORPHA:117569Rare intestinal disease
rare gastroenterological diseases
Children (17):
- ORPHA:110Bardet-Biedl syndrome
- ORPHA:314373Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
- ORPHA:2978Chronic intestinal pseudoobstruction syndrome
- ORPHA:2604Familial visceral myopathy
- ORPHA:66629Goldberg-Shprintzen megacolon syndrome
- ORPHA:99803Haddad syndrome
- ORPHA:388Hirschsprung disease
- ORPHA:2155Hirschsprung disease-deafness-polydactyly syndrome
- ORPHA:2151Hirschsprung disease-ganglioneuroblastoma syndrome
- ORPHA:2153Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
- ORPHA:2150Hirschsprung disease-type D brachydactyly syndrome
- ORPHA:314376Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
- ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndrome
- ORPHA:404463Multisystemic smooth muscle dysfunction syndrome
- ORPHA:1876Oculogastrointestinal muscular dystrophy
- ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
- ORPHA:897Waardenburg-Shah syndrome
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/104009
- This record as JSON: /data/d/104009.json