Application Version: 4.0.6.9
Content Version: 2024.01.20
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Code System Update Calendar [PDF161KB]
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Code System Concept
Code System Concept Code | 367489004 |
Code System Concept Name | Infantile malignant osteopetrosis (disorder) |
Code System Preferred Concept Name | Infantile malignant osteopetrosis (disorder) |
Concept Status | Published |
Concept Status Date | 03/01/2024 |
Code System Name | SNOMED-CT |
Concept Details
Code System Code | PH_SNOMED-CT |
Code System OID | 2.16.840.1.113883.6.96 |
HL7 Table 0396 Code | SCT |
Superseded By Concept | |
SDO Concept Status | Active |
SDO Concept Status Date | 01/31/2002 |
SDO Date Created | 01/31/2002 |
SDO Date Revised | 01/31/2002 |
Description | 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. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
1228698017 | Osteopetrosis - precocious type | Active | Synonym | false | false |
1228699013 | Congenital osteopetrosis | Active | Synonym | false | false |
1228700014 | Autosomal recessive lethal osteopetrosis | Active | Synonym | false | false |
1228701013 | Severe osteopetrosis | Active | Synonym | false | false |
1228702018 | Osteopetrosis - congenita type | Active | Synonym | false | false |
1228703011 | Albers-Schonberg syndrome | Active | Synonym | false | false |
1785236014 | Albers-Schönberg disease | Active | Synonym | false | false |
3437513010 | Autosomal recessive malignant osteopetrosis | Active | Synonym | false | false |
492384014 | Infantile malignant osteopetrosis | Active | Synonym | false | false |
492385010 | Albers-Sch?nberg disease | Active | Synonym | false | false |
492386011 | Marble bone disease | Active | Synonym | false | false |
492387019 | Ivory bones | Active | Synonym | false | false |
492388012 | Albers-Scho@nberg syndrome | Active | Synonym | false | false |
492389016 | Osteopetrosis generalisata | Active | Synonym | false | false |
492390013 | Albers-Schoenberg syndrome | Active | Synonym | false | false |
Parent Concepts
No parent concepts present.
|
Other Relationships
No other relationships present.
|
Child Concepts
No child concepts present.
|
Application Version: 4.0.6.9
Content Version: 2024.01.20
Release Notes [PDF285KB]
User Guide [PDF6.08MB]
Code System Update Calendar [PDF161KB]
Contact Us
Subscribe
Related Links
- PHIN Vocabulary Services
- Quick Links / Mapping Tools
- External Standards Resources
- Message Guides
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Downloads
- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: