bork stender schmidt syndrome

Preferred Label : bork stender schmidt syndrome;

CISMeF synonym : Tricho-retino-dento-digital syndrome; Syndrome de Bork;

MeSH synonym : uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly; Bork syndrome;

Details

Origin ID

C536576;

UMLS CUI

C1860605;

Automatic exact mappings (from CISMeF team)
- Tricho-retino-dento-digital syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Tricho-retino-dento-digital syndrome [ORDO Disease]
- Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly [OMIM Phenotype]
- Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- brachydactyly [MeSH Descriptor]
- hair [MeSH Descriptor]
- retinitis pigmentosa [MeSH Descriptor]
- tooth diseases [MeSH Descriptor]
Record concept(s)
- Bork Stender Schmidt syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Tricho-retino-dento-digital syndrome [ORDO Disease]
- Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly [OMIM Phenotype]
- Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients