diabetes mellitus, permanent neonatal, with cerebellar agenesis

Preferred Label : diabetes mellitus, permanent neonatal, with cerebellar agenesis;

MeSH synonym : pancreatic and cerebellar agenesis;

Origin ID

C563796;

UMLS CUI

C1836780;

Currated CISMeF NLP mapping
- Pancreatic and cerebellar agenesis [OMIM Phenotype]
- Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis [ICD-11 More detail]
- Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) [SNOMED CT concept]
- Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- cerebellum [MeSH Descriptor]
- diabetes mellitus [MeSH Descriptor]
- facies [MeSH Descriptor]
- fetal growth retardation [MeSH Descriptor]
Record concept(s)
- diabetes mellitus, permanent neonatal, with cerebellar agenesis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pancreatic and cerebellar agenesis [OMIM Phenotype]
- Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome [ORDO Disease]