| Metadata | |
|---|---|
| ID | DOID:1062 |
| Name | Fanconi syndrome |
| Definition | A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. http://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/fanconi_syndrome.html, http://www.nlm.nih.gov/medlineplus/ency/article/000333.htm, http://en.wikipedia.org/wiki/Fanconi_syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:236468006 SNOMEDCT_US_2023_03_01:40488004 |
| SKOS |
exactMatch MESH:D005198 |
| Alternateids |
DOID:5956 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
adult Fanconi Anemia [EXACT] adult Fanconi syndrome [EXACT] Congenital Fanconi syndrome [EXACT] De Toni-Fanconi syndrome [EXACT] deToni Fanconi syndrome [EXACT] Fanconi-de Toni syndrome [EXACT] Fanconi-de-Toni syndrome [EXACT] Infantile nephropathic cystinosis [EXACT] Lignac-Fanconi syndrome [EXACT] |
| Parent Relationships |