papillorenal syndrome

Preferred Label : papillorenal syndrome;

CISMeF synonym : renal hypoplasia, isolated;

MeSH synonym : renal-coloboma syndrome; optic nerve coloboma with renal disease; coloboma of optic nerve with renal disease; optic coloboma, vesicoureteral reflux, and renal anomalies; Renal-Coloboma syndrome with macular abnormalities; optic nerve coloboma renal syndrome; renal coloboma syndrome; Coloboma-Ureteral-Renal syndrome;

Details

Origin ID

C537168;

UMLS CUI

C1852759;

CISMeF manual mappings
- Renal coloboma syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Papillorenal syndrome [ICD-11 More detail]
- Papillorenal syndrome [OMIM Phenotype]
- Renal Coloboma Syndrome [NCIt concept]
- Renal coloboma syndrome [PASCAL descriptor]
- Renal coloboma syndrome [ORDO Disease]
- papillorenal syndrome [Disease (Nov.)]
- renal coloboma syndrome [DO Concept]
Has phenotype(s) (HPO)
- Epilepsy [HPO term]
MeSH term(s) associated for indexing
- coloboma [MeSH Descriptor]
- renal insufficiency [MeSH Descriptor]
- vesico-ureteral reflux [MeSH Descriptor]
Record concept(s)
- Papillorenal syndrome [MeSH concept]
- renal hypoplasia, isolated [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Papillorenal syndrome [OMIM Phenotype]
- Renal Coloboma Syndrome [NCIt concept]
- Renal coloboma syndrome [ORDO Disease]
- Renal coloboma syndrome [PASCAL descriptor]
- Renal coloboma syndrome [MedDRA Preferred Term]
- Renal coloboma syndrome (disorder) [SNOMED CT concept]
- papillorenal syndrome [Disease (Nov.)]
- renal coloboma syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

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