schofer beetz bohl syndrome

Preferred Label : schofer beetz bohl syndrome;

MeSH note : Diabetes insipidus, nephrogenic with mental retardation and intracerebral calcification;

Details

Origin ID

C535949;

UMLS CUI

C2931070;

Automatic exact mappings (from CISMeF team)
- Diabetes insipidus, nephrogenic, with impaired intellectual development and intracerebral calcification [OMIM Phenotype]
- Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- brain diseases, metabolic [MeSH Descriptor]
- calcinosis [MeSH Descriptor]
- diabetes insipidus [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- Schofer Beetz Bohl syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder) [SNOMED CT concept]
- Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome [ORDO Disease]

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