osteopetrosis autosomal dominant type 2

Preferred Label : osteopetrosis autosomal dominant type 2;

CISMeF synonym : Albers-Schonberg disease;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0531502;

UMLS CUI

C3179239;

Automatic exact mappings (from CISMeF team)
- Autosomal Dominant Osteopetrosis [NCIt concept]
Currated CISMeF NLP mapping
- Albers Schoenberg disease [Disease (Nov.)]
- Albers-Schonberg disease [MedDRA LLT]
- Albers-Schönberg osteopetrosis [ORDO Disease]
- Autosomal dominant osteopetrosis type 2 [ICD-11 More detail]
- Autosomal dominant osteopetrosis type 2 (disorder) [SNOMED CT concept]
- Infantile malignant osteopetrosis (disorder) [SNOMED CT concept]
- Osteopetrosis [PASCAL descriptor]
- Osteopetrosis [NCIt concept]
- Osteopetrosis [ICD-10 Sub-category]
- Osteopetrosis [ICD-10 Sub-category (who)]
- Osteopetrosis [HPO term]
- Osteopetrosis [MedDRA Preferred Term]
- Osteopetrosis (disorder) [SNOMED CT concept]
- Osteopetrosis and related disorders [ORDO Disease]
- Osteopetrosis, autosomal dominant 2 [OMIM Phenotype]
- autosomal dominant osteopetrosis 2 [DO Concept]
- infantile malignant osteopetrosis [SNOMED Notion]
- osteopetrosis [DO Concept]
- osteopetrosis, nos [SNOMED Notion]
Related record
- osteopetrosis [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Albers-Schönberg osteopetrosis [ORDO Disease]
- Autosomal dominant osteopetrosis type 2 (disorder) [SNOMED CT concept]
- Osteopetrosis, autosomal dominant 2 [OMIM Phenotype]
- autosomal dominant osteopetrosis 2 [DO Concept]

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