Pili torti, early-onset

Preferred Label : Pili torti, early-onset;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Pili torti, ronchese type; Twisted hair;

Description : Pili torti, or twisted hair, is a condition in which the hair shafts are flattened and rotated along their long axis. Hairs are fragile and break at short length. Some patients may have associated dental or nail findings, and many have resolution of the fragile hair at puberty (review by Dawber, 1996). Pili torti is also a feature in several disorders, including Bjornstad syndrome (BJS; 262000), Bazex syndrome (BZX; 301845), and Menkes disease (309400).;

Inheritance : Autosomal dominant; Autosomal recessive; Isolated cases;

Prefixed ID : %261900;

Details

Origin ID

261900;

UMLS CUI

C0263491;

Automatic exact mappings (from CISMeF team)
- Pili torti [ICD-11 More detail]
Currated CISMeF NLP mapping
- Pili torti [PASCAL descriptor]
- Pili torti [ORDO Disease]
- Pili torti [HRDO Sign]
- Pili torti [HPO term]
- Pili torti (disorder) [SNOMED CT concept]
- pili torti [MeSH Supplementary Concept]
- pili torti [SNOMED Notion]
- pili torti [MeSH concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brittle hair [HPO term]
- Coarse hair [HPO term]
- Dry hair [HPO term]
- Enamel hypoplasia [HPO term]
- Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes [HPO term]
- Pili torti [HPO term]
- Sporadic [HPO term]
ORDO concept(s)
- Pili torti [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Pili torti [ORDO Disease]
- Pili torti [HPO term]
- Pili torti [HRDO Sign]
- Pili torti [PASCAL descriptor]
- Pili torti (disorder) [SNOMED CT concept]
- pili torti [MeSH Supplementary Concept]
- pili torti [SNOMED Notion]
- pili torti [MeSH concept]

Keyword's position in hierarchy(ies) :

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