ORPHA:3123
Brittle hair syndrome, Sabinas type
inactive · moved to ORPHA:33364Trichothiodystrophy
Synonyms: Brittle hair-mental deficiency syndrome · Trichothiodystrophy type B
- Type
- Malformation syndrome
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Trichothiodystrophy
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brittle hair syndrome, Sabinas type | Brittle hair-mental deficiency syndrome · Trichothiodystrophy type B |
| fr | Syndrome de Sabinas | Syndrome de cheveux cassants-déficience intellectuelle · Trichothiodystrophie type B |
| de | Sabinas-Brittle hair-Syndrom | Trichothiodystrophie Typ B · Sprödes Haar-Intelligenzminderung-Syndrom |
| es | Síndrome del cabello quebradizo, tipo Sabinas | Cabello quebradizo-discapacidad intelectual |
| it | Sindrome dei capelli fragili, tipo Sabinas | Capelli fragili - ritardo mentale · Tricotiodistrofia, tipo B |
| nl | Broos haar syndroom, Sabinas-type | Broos haar - intellectuele achterstand · Broos haar - mentale deficiëntie · Broos haar - mentale retardatie · Trichothiodystrofie type B |
| pt | Síndrome cabelo quebradiço, tipo Sabinas | Síndrome de cabelo quebradiço-perturbação do desenvolvimento intelectual · Tricotiodistrofia tipo B |
| pl | Zespół łamliwych włosów typu Sabinasa | Łamliwe włosy - niedorozwój umysłowy · Trichotiodystrofia typu B |
| cs | Syndrom křehkých vlasů, sabinaský typ | Trichothiodystrofie, typ B · Syndrom zahrnující křehké vlasy a mentální retardaci |
| uk | Синдром ламкості волосся, тип Сабінаса | Синдром ламкості волосся та розумової відсталості · Трихотіодистрофія типу В |
| zh | Brittle hair综合征, Sabinas亚型 | 脆发-精神发育迟缓综合征 |
| tr | Kırılgan saç sendromu, Sabinas tipi | Trikotiyodistrofi tip B · Kırılgan saç-zihinsel yetersizlik sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 211390 | E | validated | |
| MeSH | C536320 | E | validated | |
| UMLS | C0796271 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Not placed in any Orphanet classification in this release.
No children.
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/3123
- This record as JSON: /data/d/3123.json