Osteopetrosis - hypogammaglobulinaemia

Preferred Label : Osteopetrosis - hypogammaglobulinaemia;

ICD-11 synonym : Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinaemia; Autosomal recessive osteopetrosis type 7;

Details

Origin ID

650867744;

UMLS CUI

C2676766;

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

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