Code System Concept

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Code System Concept

Code System Concept Code	763893008
Code System Concept Name	Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder)
Code System Preferred Concept Name	Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (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Superseded By Concept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	07/31/2018
SDO Date Created	07/31/2018
SDO Date Revised	07/31/2018
Description	A rare primary bone dysplasia characterized by severe early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, and joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3645171017	Multiple epiphyseal dysplasia with severe proximal femoral dysplasia	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Chronic arthropathy (disorder) {38850007 , SNOMED-CT } Congenital anomaly of bone and joint (disorder) {237513002 , SNOMED-CT } Congenital anomaly of femur (disorder) {123561001 , SNOMED-CT } Congenital anomaly of lower trunk (disorder) {363030001 , SNOMED-CT } Congenital dysplasia of limb (disorder) {88631000119105 , SNOMED-CT } Congenital dysplasia of lower limb (disorder) {1290922001 , SNOMED-CT } Disorder of hip joint (disorder) {428097001 , SNOMED-CT } Disorder of hip region (disorder) {118935006 , SNOMED-CT } Lesion of joint (disorder) {298149009 , SNOMED-CT } Multiple epiphyseal dysplasia (disorder) {59708000 , 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,