bangstad syndrome

Preferred Label : bangstad syndrome;

MeSH note : Primordial birdheaded nanism associated with progressive ataxia, early onset insulin resistant diabetes, goiter, and primary gonadal insufficiency; Bird-Headed Dwarfism With Progressive Ataxia, Insulin-Resistant Diabetes, Goiter, And Primary Gonadal Insufficiency;

Details

Origin ID

C537902;

UMLS CUI

C0342284;

Automatic exact mappings (from CISMeF team)
- Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Bangstad syndrome [OMIM Phenotype]
- Bangstad syndrome [ORDO Disease]
Has phenotype(s) (HPO)
- Dwarfism, 'low birth weight' type [HPO term]
- Progressive ataxia [HPO term]
MeSH term(s) associated for indexing
- ataxia [MeSH Descriptor]
- diabetes mellitus, type 1 [MeSH Descriptor]
- dwarfism [MeSH Descriptor]
- goiter [MeSH Descriptor]
- gonads [MeSH Descriptor]
ORDO relation(s)
- Bangstad syndrome [ORDO Disease]
Record concept(s)
- Bangstad syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bangstad syndrome [OMIM Phenotype]
- Bangstad syndrome [ORDO Disease]
- Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients