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782820003: Spondylometaphyseal dysplasia Czarny Ratajczak type (disorder)


    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2023. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3756026010 A rare primary bone dysplasia disorder characterized by short stature with severe shortening of limbs, genu vara deformity and enlarged joints with movement limitation particularly affecting the hip joints. Radiological findings show coxa vara, generalized metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying), which are more severe in the femur and forearm bones than the metacarpals and phalanges and vertebral abnormalities including ovoid vertebral bodies with anterior rectangular protrusions and severe platyspondyly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3756028011 A rare primary bone dysplasia disorder characterised by short stature with severe shortening of limbs, genu vara deformity and enlarged joints with movement limitation particularly affecting the hip joints. Radiological findings show coxa vara, generalised metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying), which are more severe in the femur and forearm bones than the metacarpals and phalanges and vertebral abnormalities including ovoid vertebral bodies with anterior rectangular protrusions and severe platyspondyly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3756031012 Spondylometaphyseal dysplasia Czarny Ratajczak type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3756032017 Spondylometaphyseal dysplasia Czarny Ratajczak type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    5590761000241119 dysplasie spondylo-métaphysaire de type Czarny-Ratajczak fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    3391961001000113 Dysplasie, spondyloepimetaphysäre, Typ Czarny-Ratajczak de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    dysplasie spondylo-métaphysaire de type Czarny-Ratajczak Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    dysplasie spondylo-métaphysaire de type Czarny-Ratajczak Occurrence Congenital false Inferred relationship Some 1
    dysplasie spondylo-métaphysaire de type Czarny-Ratajczak Associated morphology Dysplasia false Inferred relationship Some 1
    dysplasie spondylo-métaphysaire de type Czarny-Ratajczak Finding site Bone structure false Inferred relationship Some 1
    dysplasie spondylo-métaphysaire de type Czarny-Ratajczak Is a A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localization and severity of involvement of the affected metaphyses. false Inferred relationship Some
    dysplasie spondylo-métaphysaire de type Czarny-Ratajczak Is a Congenital anomaly of skeletal bone false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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