| infantiele maligne osteopetrose (aandoening) | | infantiele maligne osteopetrose | | Infantile malignant osteopetrosis | | Congenital osteopetrosis
Autosomal recessive malignant osteopetrosis
Marble bone disease
Autosomal recessive lethal osteopetrosis
| | A rare congenital disorder of bone resorption characterized by generalized skeletal densification. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in fetal life. It results from the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure. It is accompanied by hepatosplenomegaly due to compensatory extramedullary hematopoiesis. The disease is heterogeneous. Over 50% of cases are due to mutations in the TCIRG1 gene and another 10% are due to mutations in the CLCN7 gene. A small number of patients have been described with mutations in the OSTM1 gene. Transmission is autosomal recessive. |
| | Id | 367489004 | | Status | Primitive |
| International Patient Summary |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q78.2 | | Term | Osteopetrose |
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| SNOMED CT to Orphanet simple map | 667 |
| SNOMED CT to ICD-10 extended map | | Target | Q78.2 | | Rule | TRUE | | Advice | ALWAYS Q78.2 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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