Osteopetrosis - CISMeF

Preferred Label : Osteopetrosis;

Inclusion CIM-10 : Albers-Schönberg syndrome; Osteosclerosis NOS;

Diag associé à un acte (%) : 90.0;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q782;

UMLS CUI

C0029454;

Currated CISMeF NLP mapping
- Albers Schoenberg disease [Disease (Nov.)]
- Albers-Schonberg disease [MedDRA LLT]
- Albers-Schönberg osteopetrosis [ORDO Disease]
- Osteopetrosis [NCIt concept]
- Osteopetrosis [MedDRA Preferred Term]
- Osteopetrosis [HPO term]
- Osteopetrosis [PASCAL descriptor]
- Osteopetrosis [ICD-10 Sub-category (who)]
- Osteopetrosis [ICD-11 Sub-sub category]
- Osteopetrosis (disorder) [SNOMED CT concept]
- Osteopetrosis and related disorders [ORDO Disease]
- Osteopetrosis, autosomal dominant 2 [OMIM Phenotype]
- infantile malignant osteopetrosis [SNOMED Notion]
- osteopetrosis [MeSH concept]
- osteopetrosis [MeSH Descriptor]
- osteopetrosis [Radlex concept]
- osteopetrosis [DO Concept]
- osteopetrosis autosomal dominant type 2 [MeSH concept]
- osteopetrosis, nos [SNOMED Notion]
DO Cross reference
- autosomal recessive osteopetrosis 7 [DO Concept]
- osteopetrosis [DO Concept]
- osteosclerosis [DO Concept]
Excluded by
- Other disorders of bone density and structure [ICD-10 category]
Manual NTBT mappings (CISMeF)
- Autosomal recessive malignant osteopetrosis [ORDO Disease]
- Dysosteosclerosis [ORDO Disease]
- Dysostosis, Stanescu type [ORDO Disease]
- Infantile osteopetrosis with neuroaxonal dysplasia [ORDO Disease]
- Intermediate osteopetrosis [ORDO Disease]
- Isolated osteopoikilosis [ORDO Disease]
- Osteomesopyknosis [ORDO Disease]
- Osteopathia striata-cranial sclerosis syndrome [ORDO Disease]
- Osteopetrosis-hypogammaglobulinemia syndrome [ORDO Disease]
Orphanet concepts
- Albers-Schönberg osteopetrosis [ORDO Disease]
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome [ORDO Disease]
- Autosomal dominant osteopetrosis type 1 [ORDO Disease]
- Autosomal recessive malignant osteopetrosis [ORDO Disease]
- Endosteal hyperostosis, Worth type [ORDO Disease]
- Infantile osteopetrosis with neuroaxonal dysplasia [ORDO Disease]
- Intermediate osteopetrosis [ORDO Disease]
- Lethal osteosclerotic bone dysplasia [ORDO Disease]
- Osteomesopyknosis [ORDO Disease]
- Osteopetrosis and related disorders [ORDO Disease]
- Osteopetrosis with renal tubular acidosis [ORDO Disease]
- Osteopetrosis-hypogammaglobulinemia syndrome [ORDO Disease]
See also inter- (CISMeF)
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Albers-Schonberg disease [MedDRA LLT]
- Marble bone disease [MedDRA LLT]
- Osteopetrosis [MedDRA Preferred Term]
- Osteopetrosis [HPO term]
- Osteopetrosis [NCIt concept]
- Osteopetrosis [ICD-9 code]
- Osteopetrosis [ICD-11 Sub-sub category]
- Osteopetrosis (disorder) [SNOMED CT concept]
- Osteopetrosis and related disorders [ORDO Disease]
- osteopetrosis [MeSH Descriptor]
- osteopetrosis [MeSH concept]
- osteopetrosis [Radlex concept]
- osteopetrosis [DO Concept]
- osteopetrosis, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Autosomal dominant osteopetrosis type 2 [ICD-11 More detail]
- Osteopetrosis with renal tubular acidosis [ORDO Disease]
- autosomal dominant osteopetrosis 2 [DO Concept]

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