White forelock with malformations

Preferred Label : White forelock with malformations;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 277740;

Details

Origin ID

277740;

UMLS CUI

C1848463;

Currated CISMeF NLP mapping
- White forelock with malformations [MeSH concept]
- White forelock with malformations [ORDO Disease]
- White forelock with malformations syndrome (disorder) [SNOMED CT concept]
- white forelock with malformations [MeSH Supplementary Concept]
HPO term(s)
- Aplasia/Hypoplasia of the distal phalanges of the toes [HPO term]
- Aplasia/Hypoplastia of the distal phalanges of the toes [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchomalacia [HPO term]
- Hypertelorism [HPO term]
- Poliosis [HPO term]
- Prominent veins on trunk [HPO term]
- White forelock [HPO term]
ORDO concept(s)
- White forelock with malformations [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- White forelock with malformations [ORDO Disease]
- White forelock with malformations [MeSH concept]
- White forelock with malformations syndrome (disorder) [SNOMED CT concept]
- white forelock with malformations [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients