Crome syndrome

Preferred Label : Crome syndrome;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Prefixed ID : %218900;

Details

Origin ID

218900;

UMLS CUI

C0795914;

Currated CISMeF NLP mapping
- Cataract-nephropathy-encephalopathy syndrome [ORDO Disease]
- Congenital cataract, nephropathy, encephalopathy syndrome (disorder) [SNOMED CT concept]
- Crome syndrome [MeSH concept]
- crome syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebellar dysplasia [HPO term]
- Developmental cataract [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Nystagmus [HPO term]
- Renal tubular epithelial necrosis [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Cataract-nephropathy-encephalopathy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cataract-nephropathy-encephalopathy syndrome [ORDO Disease]
- Congenital cataract, nephropathy, encephalopathy syndrome (disorder) [SNOMED CT concept]
- Crome syndrome [MeSH concept]
- crome syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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