vitamin D-Dependent rickets, type 2A

Preferred Label : vitamin D-Dependent rickets, type 2A;

MeSH note : mutation in vitamin D receptor;

MeSH synonym : Rickets-Alopecia syndrome; VDDR2A; pseudovitamin D-Deficiency, type IIA;

Details

Origin ID

C562794;

UMLS CUI

C0342646;

Currated CISMeF NLP mapping
- Vitamin D Dependent Rickets 2a [NCIt concept]
- Vitamin D-dependent rickets type II with alopecia (disorder) [SNOMED CT concept]
- Vitamin D-dependent rickets, type 2a [OMIM Phenotype]
- vitamin D dependent rickets type II with alopecia [Disease (Nov.)]
MeSH term(s) associated for indexing
- familial hypophosphatemic rickets [MeSH Descriptor]
Record concept(s)
- vitamin D-Dependent rickets, type 2A [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Vitamin D Dependent Rickets 2a [NCIt concept]
- Vitamin D-dependent rickets type II with alopecia (disorder) [SNOMED CT concept]
- Vitamin D-dependent rickets, type 2a [OMIM Phenotype]
- vitamin D dependent rickets type II with alopecia [Disease (Nov.)]

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