FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

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


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3645171017 Multiple epiphyseal dysplasia with severe proximal femoral dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
901911000172114 dysplasie épiphysaire multiple avec dysplasie fémorale sévère fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
923011000172119 meervoudige epifysaire dysplasie, met ernstige proximale femorale dysplasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
973991000172112 multipele epifysaire dysplasie, met ernstige proximale femorale dysplasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

Back to Start