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763893008: Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder)


Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3645170016 Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3645171017 Multiple epiphyseal dysplasia with severe proximal femoral dysplasia en Synonym Active Case insensitive SNOMED CT core
3645172012 A rare primary bone dysplasia characterised by severe early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centres 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. en Definition Active Case sensitive SNOMED CT core
3645173019 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. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Pathological process Pathological developmental process true Inferred relationship Some 2
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Pathological process Pathological developmental process true Inferred relationship Some 1
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Associated morphology Dysplasia true Inferred relationship Some 1
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Associated morphology Dysplasia true Inferred relationship Some 2
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Is a Chronic arthropathy false Inferred relationship Some
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Clinical course Progressive true Inferred relationship Some 3
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Is a Disorder of hip true Inferred relationship Some
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Is a Congenital anomaly of lower trunk true Inferred relationship Some
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Interprets Height / growth measure true Inferred relationship Some 4
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Is a Multiple epiphyseal dysplasia true Inferred relationship Some
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Is a Congenital anomaly of femur true Inferred relationship Some
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Is a Congenital anomaly of bone and joint false Inferred relationship Some
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Is a Lesion of joint false Inferred relationship Some
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Is a Disorder of hip joint false Inferred relationship Some
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 2
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Finding site Bone structure of proximal femur false Inferred relationship Some 2
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Occurrence Congenital true Inferred relationship Some 2
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 1
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Finding site Structure of epiphysis false Inferred relationship Some 1
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Occurrence Congenital true Inferred relationship Some 1
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Finding site Bone structure of proximal femur true Inferred relationship Some 1
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Finding site Structure of epiphysis true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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