infantile malignant osteopetrosis

Preferred Label : infantile malignant osteopetrosis;

Details

Origin ID

D4-00B01;

UMLS CUI

C1318518;

Automatic exact mappings (from CISMeF team)
- ATPase H+ transporting V0 subunit a2 [HGNC gene]
- Autosomal Dominant Osteopetrosis [NCIt concept]
- Autosomal recessive malignant osteopetrosis [ORDO Disease]
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 [MedDRA Preferred Term]
- Osteopetrosis [NCIt concept]
- Osteopetrosis [ICD-10 Sub-category]
- Osteopetrosis [ICD-10 Sub-category (who)]
- Osteopetrosis [HPO term]
- Osteopetrosis (disorder) [SNOMED CT concept]
- Osteopetrosis and related disorders [ORDO Disease]
- Osteopetrosis, autosomal dominant 2 [OMIM Phenotype]
- osteopetrosis [MeSH Descriptor]
- osteopetrosis [MeSH concept]
- osteopetrosis autosomal dominant type 2 [MeSH concept]
ICD-10 exact mapping(s)
- Osteopetrosis [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Autosomal recessive syndromic optic atrophy [ORDO Disease]
- Non-pore-loop channelopathy due to Cl- transporter Clc7anomaly [ORDO Disease]
- Primary bone dysplasia with increased bone density [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
See also inter- (CISMeF)
- autosomal dominant osteopetrosis 2 [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive malignant osteopetrosis [ORDO Disease]
- Infantile malignant osteopetrosis (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- Osteopetrosis [ICD-11 Sub-sub category]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients