osteopetrosis - CISMeF

Preferred Label : osteopetrosis;

MeSH definition : Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY).;

MeSH synonym : marble bone disease; osteopetroses; disease, marble bone; osteosclerosis fragilis; disease, Albers-Schönberg; Albers-Schoenberg disease; osteosclerosis fragilis generalisata; osteosclerosis fragilis generalisatas; Albers-Schönberg disease; albers schönberg disease; albers schoenberg disease; disease, Albers-Schoenberg; Albers-Schonberg Disease; Albers Schonberg Disease; Disease, Albers-Schonberg;

DeCS synonym : Albers Sch nberg Disease; Albers-Sch nberg Disease;

MeSH hyponym : osteopetrosis autosomal dominant type 2; congenital osteopetrosis; Osteopetrosis, Autosomal Dominant, Type II; Marble Bones, Autosomal Dominant; Osteopetrosis, Autosomal Dominant 2; Albers-Schonberg Disease, Autosomal Dominant; Albers Schonberg Disease, Autosomal Dominant; Autosomal Dominant Osteopetrosis Type 2;

False MeSH synonym : albers schoenberg disease; albers-schoenberg disease; disease, albers-schoenberg;

MeSH annotation : do not confuse with OSTEOPOROSIS;

Details

Origin ID

D010022;

UMLS CUI

C0029454;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Autosomal Dominant Osteopetrosis [NCIt concept]
- Marble bone disease [MedDRA LLT]
- Osteopetrosis [ACR pathology]
- Osteopetrosis [ACR pathology]
Currated CISMeF NLP mapping
- Albers Schoenberg disease [Disease (Nov.)]
- Albers-Schonberg disease [MedDRA LLT]
- Albers-Schönberg osteopetrosis [ORDO Disease]
- Infantile malignant osteopetrosis (disorder) [SNOMED CT concept]
- Osteopetrosis [PASCAL descriptor]
- Osteopetrosis [ICD-10 Sub-category]
- Osteopetrosis [ICD-11 Sub-sub category]
- Osteopetrosis [ICD-10 Sub-category (who)]
- Osteopetrosis [HPO term]
- Osteopetrosis [MedDRA Preferred Term]
- Osteopetrosis [ICD-9 code]
- Osteopetrosis [NCIt concept]
- Osteopetrosis (disorder) [SNOMED CT concept]
- Osteopetrosis and related disorders [ORDO Disease]
- Osteopetrosis, autosomal dominant 2 [OMIM Phenotype]
- infantile malignant osteopetrosis [SNOMED Notion]
- osteopetrosis [DO Concept]
- osteopetrosis [Radlex concept]
- osteopetrosis, nos [SNOMED Notion]
DO Cross reference
- autosomal dominant osteopetrosis 2 [DO Concept]
- osteopetrosis [DO Concept]
HPO term
- Osteopetrosis [HPO term]
Manual NTBT mappings (CISMeF)
- Autosomal recessive malignant osteopetrosis [ORDO Disease]
- Autosomal recessive syndromic optic atrophy [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]
- Non-chondrodysplastic malformation syndrome affecting bones [ORDO Disease]
- Non-pore-loop channelopathy due to Cl- transporter Clc7anomaly [ORDO Disease]
- Osteomesopyknosis [ORDO Disease]
- Osteopathia striata-cranial sclerosis syndrome [ORDO Disease]
- Osteopetrosis-hypogammaglobulinemia syndrome [ORDO Disease]
- Primary bone dysplasia with increased bone density [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
ORDO relation(s)
- Osteopetrosis and related disorders [ORDO Disease]
Record concept(s)
- congenital osteopetrosis [MeSH concept]
- osteopetrosis [MeSH concept]
- osteopetrosis autosomal dominant type 2 [MeSH concept]
Related MeSH Supplementary Concept(s)
- ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema [MeSH Supplementary Concept]
- osteopetrosis and infantile neuroaxonal dystrophy [MeSH Supplementary Concept]
- osteopetrosis autosomal dominant type 1 [MeSH Supplementary Concept]
- osteopetrosis lethal [MeSH Supplementary Concept]
- osteopetrosis with renal tubular acidosis [MeSH Supplementary Concept]
- osteopetrosis, autosomal recessive 1 [MeSH Supplementary Concept]
- osteopetrosis, autosomal recessive 4 [MeSH Supplementary Concept]
- osteopetrosis, autosomal recessive 5 [MeSH Supplementary Concept]
- osteopetrosis, autosomal recessive 6 [MeSH Supplementary Concept]
- osteopetrosis, autosomal recessive 7 [MeSH Supplementary Concept]
- osteopetrosis, mild autosomal recessive form [MeSH Supplementary Concept]
- roy maroteaux kremp syndrome [MeSH Supplementary Concept]
- whyte murphy fallon sly syndrome [MeSH Supplementary Concept]
- worth syndrome [MeSH Supplementary Concept]
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 [ICD-10 Sub-category]
- Osteopetrosis [HPO term]
- Osteopetrosis [MedDRA Preferred Term]
- Osteopetrosis [ICD-10 Sub-category (who)]
- Osteopetrosis [ICD-9 code]
- Osteopetrosis [ICD-11 Sub-sub category]
- Osteopetrosis [NCIt concept]
- Osteopetrosis (disorder) [SNOMED CT concept]
- Osteopetrosis and related disorders [ORDO Disease]
- osteopetrosis [DO Concept]
- osteopetrosis [Radlex concept]
- osteopetrosis, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Autosomal dominant osteopetrosis type 2 [ICD-11 More detail]
- Autosomal dominant osteopetrosis type 2 (disorder) [SNOMED CT concept]
- Osteopetrosis with renal tubular acidosis [ORDO Disease]
- autosomal dominant osteopetrosis 2 [DO Concept]

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