osteopetrosis, autosomal recessive 7

Preferred Label : osteopetrosis, autosomal recessive 7;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0567654;

UMLS CUI

C2676766;

Currated CISMeF NLP mapping
- Osteopetrosis - hypogammaglobulinaemia [ICD-11 More detail]
- Osteopetrosis hypogammaglobulinemia syndrome (disorder) [SNOMED CT concept]
- Osteopetrosis, autosomal recessive 7 [OMIM Phenotype]
- Osteopetrosis-hypogammaglobulinemia syndrome [ORDO Disease]
- autosomal recessive osteopetrosis 7 [DO Concept]
Related record
- osteopetrosis, autosomal recessive 7 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteopetrosis - hypogammaglobulinaemia [ICD-11 More detail]
- Osteopetrosis, autosomal recessive 7 [OMIM Phenotype]
- Osteopetrosis-hypogammaglobulinemia syndrome [ORDO Disease]
- autosomal recessive osteopetrosis 7 [DO Concept]