hardikar syndrome

Preferred Label : hardikar syndrome;

MeSH synonym : cholestasis-pigmentary retinopathy-cleft palate syndrome;

Origin ID

C535632;

UMLS CUI

C0795969;

Currated CISMeF NLP mapping
- Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) [SNOMED CT concept]
- Cholestasis-pigmentary retinopathy-cleft palate syndrome [ORDO Disease]
- Hardikar syndrome [Disease (Nov.)]
- Hardikar syndrome [OMIM Phenotype]
- Hardikar syndrome [OMIM Phenotype]
Has phenotype(s) (HPO)
- Abnormal liver function tests [HPO term]
- Isolated cases [HPO term]
MeSH term(s) associated for indexing
- cholestasis [MeSH Descriptor]
- cleft palate [MeSH Descriptor]
- retinitis pigmentosa [MeSH Descriptor]
Record concept(s)
- Hardikar syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) [SNOMED CT concept]
- Cholestasis-pigmentary retinopathy-cleft palate syndrome [ORDO Disease]
- Hardikar syndrome [OMIM Phenotype]
- Hardikar syndrome [Disease (Nov.)]
- Hardikar syndrome [OMIM Phenotype]