Code System Concept

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Code System Concept

Code System Concept Code	1197053003
Code System Concept Name	Melorheostosis with osteopoikilosis (disorder)
Code System Preferred Concept Name	Melorheostosis with osteopoikilosis (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

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Superseded By Concept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	09/01/2022
SDO Date Created	02/28/2022
SDO Date Revised	02/28/2022
Description	A rare sclerosing bone dysplasia combining the clinical and radiological features of melorheostosis and osteopoikilosis. The disease has been reported in some families with osteopoikilosis and with variable presentation of limb pain and deformities. Caused by a germline mutation in the LEMD3 gene (12q14), which may predispose individuals with osteopoikilosis to develop melorheostosis. Inheritance 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
4694741018	Mixed sclerosing bone dystrophy	Active	Synonym	false	false
4694742013	Melorheostosis with osteopoikilosis	Active	Synonym	false	false
4694743015	MSBD (mixed sclerosing bone dystrophy) syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal dominant hereditary disorder (disorder) {11164009 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Melorheostosis (disorder) {44697002 , SNOMED-CT } Osteopoikilosis (disorder) {9147009 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,