Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 1264041000 |
Code System Concept Name | Autosomal dominant osteopetrosis type 1 (disorder) |
Code System Preferred Concept Name | Autosomal dominant osteopetrosis type 1 (disorder) |
Concept Status | Published |
Concept Status Date | 09/01/2024 |
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Superseded By Concept | |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 | 03/01/2024 |
SDO Date Created | 02/28/2023 |
SDO Date Revised | 02/28/2023 |
Description | A rare sclerosing bone disorder with characteristics of skeletal densification that predominantly involves the cranial vault. The disease typically has onset in late childhood or adolescence. Clinical signs include chronic bone pain and disorders of the cranial nerves (trigeminal neuralgia, facial palsy, hearing loss). The disease is due to a gain-of-function mutation in the LRP5 gene (Low density lipoprotein receptor-related protein 5; 11q12-q13) that results in increased bone formation. Transmission is autosomal dominant. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
5171029013 | Autosomal dominant osteopetrosis type 1 | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
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Other Relationships
No other relationships present.
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Child Concepts
No child concepts present.
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- Page last reviewed:June 20, 2024
- Page last updated:June 20, 2024
- Content source: