ORPHA:557866
Rare disorder with Hirschsprung disease as a major feature
- 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 disorder with Hirschsprung disease as a major feature | |
| fr | Maladie rare avec maladie de Hirschsprung comme manifestation majeure | |
| de | Seltene Krankheit mit Hirschsprung-Krankheit als Hauptmerkmal | |
| es | Trastorno raro con enfermedad de Hirschsprung como característica principal | |
| it | Malattia rara con prevalenti segni clinici della malattia di Hirschsprung | |
| nl | Zeldzame aandoening met ziekte van Hirschsprung als hoofdkenmerk | |
| pt | Doença rara com doença de Hirschsprung como característica principal | |
| pl | Rzadkie zaburzenie z choroby Hirschsprunga jako głównym objawem | |
| cs | Vzácné onemocnění s Hirschsprungovou chorobou jako hlavním příznakem | |
| uk | Рідкісний розлад, основною ознакою якого є хвороба Гіршпрунга | |
| zh | 以希尔施普龙病为主要特征的罕见病 | |
| tr | Esas klinik özelliği Hirschsprung hastalığı ile seyreden nadir bozukluk |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681269 | 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:108969Syndromic intestinal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
Children (9):
- ORPHA:110Bardet-Biedl syndrome
- ORPHA:66629Goldberg-Shprintzen megacolon syndrome
- ORPHA:99803Haddad syndrome
- ORPHA:2155Hirschsprung disease-deafness-polydactyly syndrome
- ORPHA:2153Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
- ORPHA:2150Hirschsprung disease-type D brachydactyly syndrome
- ORPHA:2152Mowat-Wilson syndrome
- 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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/557866
- This record as JSON: /data/d/557866.json