glycogenosis with glucoaminophosphaturia

Preferred Label : glycogenosis with glucoaminophosphaturia;

Origin ID

D6-50450;

UMLS CUI

C3536827;

CISMeF manual mappings
- Congenital Fanconi syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Fanconi-Bickel syndrome [ORDO Disease]
- Fanconi-bickel syndrome [OMIM Phenotype]
- Glycogen Storage Disease Type XI [NCIt concept]
- Glycogen storage disease XI [OMIM Phenotype]
- Glycogen storage disease due to GLUT2 deficiency [ICD-11 More detail]
- Glycogenosis with glucoaminophosphaturia (disorder) [SNOMED CT concept]
- fanconi bickel syndrome [MeSH concept]
ICD-10 exact mapping(s)
- Glycogen storage disease [ICD-10 Sub-category (who)]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- glycogen, nos [SNOMED Notion]
SNOMED CT concept
- Glycogenosis with glucoaminophosphaturia (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogenosis with glucoaminophosphaturia (disorder) [SNOMED CT concept]