ORPHA:79367
Syndromic hair shaft abnormality
- 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndromic hair shaft abnormality | |
| fr | Syndrome avec anomalie de la gaine des cheveux | |
| de | Haarschaftanomalie, syndromale | |
| es | Anomalías sindrómicas del tallo del cabello | |
| it | Anomalie sindromiche dello stelo del capello | |
| nl | Syndromale haarschachtafwijking | |
| pt | Anomalias da haste capilar sindromática | |
| pl | Syndromiczne nieprawidłowości pokrywy włosowej | |
| cs | Syndromické abnormality stvolu vlasů | |
| uk | Синдромальна аномалія волосяного стрижня | |
| zh | 综合征性毛干异常 | |
| tr | Sendromik saç şaftı anormalliği |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 19282 | E | validated | |
| UMLS | C5681478 | 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 (2):
- ORPHA:183450Genetic hair anomaly
rare genetic diseases - ORPHA:79363Hair anomaly
rare skin diseases
Children (8):
- ORPHA:123Björnstad syndrome
- ORPHA:565Menkes disease
- ORPHA:2891Pili torti-developmental delay-neurological abnormalities syndrome
- ORPHA:434809Syndrome with woolly hair
- ORPHA:3352Tricho-dento-osseous syndrome
- ORPHA:3351Trichodental syndrome
- ORPHA:3361Trichodysplasia-xeroderma syndrome
- ORPHA:33364Trichothiodystrophy
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/79367
- This record as JSON: /data/d/79367.json