Hardikar syndrome

Preferred Label : Hardikar syndrome;

Obsolete resource : true;

Moved to : 301068;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Isolated cases;

Laboratory abnormalities : Hyperbilirubinemia; Abnormal liver function tests;

Prefixed ID : 612726;

Details

Origin ID

612726;

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 [MeSH concept]
- hardikar syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal liver function tests [HPO term]
- Isolated cases [HPO term]
ORDO concept(s)
- Cholestasis-pigmentary retinopathy-cleft palate syndrome [ORDO Disease]
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 [MeSH concept]
- Hardikar syndrome [Disease (Nov.)]
- hardikar syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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