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722433005: Dyschondrosteosis and nephritis syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3332051014 The association of short stature due to mesomelic shortening of the limbs and Madelung deformity with hereditary nephritis. The syndrome was originally described in male and female members from four generations of one large kindred. The females appeared to be more severely affected than the males, with a sex ratio (female to male) of 4:1. The skeletal anomalies closely resembled those of Leri-Weill dyschondrosteosis. The mode of transmission was reported as autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3332049010 Dyschondrosteosis and nephritis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3332050010 Dyschondrosteosis and nephritis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    6095271000241114 syndrome de dyschondrostéose - néphropathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    3410821001000112 Dyschondrosteose - Nephritis 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
    syndrome de dyschondrostéose - néphropathie Is a Autosomal dominant hereditary disorder (disorder) false Inferred relationship Some
    syndrome de dyschondrostéose - néphropathie Is a Multiple system malformation syndrome false Inferred relationship Some
    syndrome de dyschondrostéose - néphropathie Is a Mesomelic dysplasia false Inferred relationship Some
    syndrome de dyschondrostéose - néphropathie Is a Congenital nephritis false Inferred relationship Some
    syndrome de dyschondrostéose - néphropathie Is a Connective tissue hereditary disorder false Inferred relationship Some
    syndrome de dyschondrostéose - néphropathie Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
    syndrome de dyschondrostéose - néphropathie Is a Hereditary nephritis (disorder) false Inferred relationship Some
    syndrome de dyschondrostéose - néphropathie Associated morphology inflammation chronique false Inferred relationship Some 3
    syndrome de dyschondrostéose - néphropathie Occurrence Congenital false Inferred relationship Some 3
    syndrome de dyschondrostéose - néphropathie Finding site Glomerulus structure false Inferred relationship Some 3
    syndrome de dyschondrostéose - néphropathie Associated morphology Congenital dysplasia false Inferred relationship Some 4
    syndrome de dyschondrostéose - néphropathie Occurrence Congenital false Inferred relationship Some 4
    syndrome de dyschondrostéose - néphropathie Finding site Bone structure false Inferred relationship Some 4
    syndrome de dyschondrostéose - néphropathie Associated morphology Congenital dysplasia false Inferred relationship Some 2
    syndrome de dyschondrostéose - néphropathie Occurrence Congenital false Inferred relationship Some 1
    syndrome de dyschondrostéose - néphropathie Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    syndrome de dyschondrostéose - néphropathie Occurrence Congenital false Inferred relationship Some 2
    syndrome de dyschondrostéose - néphropathie Finding site Bone structure false Inferred relationship Some 2
    syndrome de dyschondrostéose - néphropathie Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    syndrome de dyschondrostéose - néphropathie Associated morphology inflammation chronique false Inferred relationship Some 1
    syndrome de dyschondrostéose - néphropathie Is a Congenital anomaly of the kidney (disorder) false Inferred relationship Some
    syndrome de dyschondrostéose - néphropathie Finding site Glomerulus structure false Inferred relationship Some 1
    syndrome de dyschondrostéose - néphropathie Associated morphology Dysplasia false Inferred relationship Some 2
    syndrome de dyschondrostéose - néphropathie Is a Chronic glomerulonephritis false Inferred relationship Some
    syndrome de dyschondrostéose - néphropathie Is a Congenital anomaly of skeletal bone false Inferred relationship Some
    syndrome de dyschondrostéose - néphropathie Clinical course Progressive false Inferred relationship Some 3
    syndrome de dyschondrostéose - néphropathie Is a Developmental hereditary disorder false Inferred relationship Some
    syndrome de dyschondrostéose - néphropathie Interprets Height / growth measure false Inferred relationship Some 4
    syndrome de dyschondrostéose - néphropathie Interprets Limb length false Inferred relationship Some 3
    syndrome de dyschondrostéose - néphropathie Has interpretation Below reference range false Inferred relationship Some 3
    syndrome de dyschondrostéose - néphropathie Is a Madelung's deformity (disorder) false Inferred relationship Some
    syndrome de dyschondrostéose - néphropathie Finding site Bone structure of radius false Inferred relationship Some 4
    syndrome de dyschondrostéose - néphropathie Associated morphology Dysplasia false Inferred relationship Some 4
    syndrome de dyschondrostéose - néphropathie Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
    syndrome de dyschondrostéose - néphropathie Finding site Joint structure of wrist region (body structure) false Inferred relationship Some 2
    syndrome de dyschondrostéose - néphropathie Occurrence Congenital false Inferred relationship Some 5
    syndrome de dyschondrostéose - néphropathie Finding site Bone structure of distal ulna false Inferred relationship Some 5
    syndrome de dyschondrostéose - néphropathie Associated morphology Dysplasia false Inferred relationship Some 5
    syndrome de dyschondrostéose - néphropathie Pathological process (attribute) Pathological developmental process false Inferred relationship Some 5
    syndrome de dyschondrostéose - néphropathie Associated morphology Chronic inflammatory morphology (morphologic abnormality) false Inferred relationship Some 1
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

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