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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
    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
    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 Only initial character case insensitive (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 Only initial character 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
    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
    3410821001000112 Dyschondrosteose - Nephritis de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    6095271000241114 syndrome de dyschondrostéose - néphropathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    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
    Dyschondrosteose - Nephritis Is a Autosomal dominant hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Dyschondrosteose - Nephritis Is a Multiple system malformation syndrome false Inferred relationship Existential restriction modifier (core metadata concept)
    Dyschondrosteose - Nephritis Is a Mesomelic dysplasia false Inferred relationship Existential restriction modifier (core metadata concept)
    Dyschondrosteose - Nephritis Is a Congenital nephritis false Inferred relationship Existential restriction modifier (core metadata concept)
    Dyschondrosteose - Nephritis Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Dyschondrosteose - Nephritis Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
    Dyschondrosteose - Nephritis Is a Hereditary nephritis false Inferred relationship Existential restriction modifier (core metadata concept)
    Dyschondrosteose - Nephritis Associated morphology inflammation chronique false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Dyschondrosteose - Nephritis Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Dyschondrosteose - Nephritis Finding site Glomerulus structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Dyschondrosteose - Nephritis Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Dyschondrosteose - Nephritis Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Dyschondrosteose - Nephritis Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Dyschondrosteose - Nephritis Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Dyschondrosteose - Nephritis Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Dyschondrosteose - Nephritis Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Dyschondrosteose - Nephritis Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Dyschondrosteose - Nephritis Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Dyschondrosteose - Nephritis Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Dyschondrosteose - Nephritis Associated morphology inflammation chronique false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Dyschondrosteose - Nephritis Is a Congenital anomaly of the kidney false Inferred relationship Existential restriction modifier (core metadata concept)
    Dyschondrosteose - Nephritis Finding site Glomerulus structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Dyschondrosteose - Nephritis Associated morphology Dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Dyschondrosteose - Nephritis Is a Chronic glomerulonephritis false Inferred relationship Existential restriction modifier (core metadata concept)
    Dyschondrosteose - Nephritis Is a Congenital anomaly of skeletal bone false Inferred relationship Existential restriction modifier (core metadata concept)
    Dyschondrosteose - Nephritis Clinical course Progressive false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Dyschondrosteose - Nephritis Is a Developmental hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Dyschondrosteose - Nephritis Interprets Height / growth measure (observable entity) false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Dyschondrosteose - Nephritis Interprets Limb length false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Dyschondrosteose - Nephritis Has interpretation Below reference range false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Dyschondrosteose - Nephritis Is a Madelung's deformity false Inferred relationship Existential restriction modifier (core metadata concept)
    Dyschondrosteose - Nephritis Finding site Bone structure of radius false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Dyschondrosteose - Nephritis Associated morphology Dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Dyschondrosteose - Nephritis Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Dyschondrosteose - Nephritis Finding site Joint structure of wrist region (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Dyschondrosteose - Nephritis Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
    Dyschondrosteose - Nephritis Finding site Bone structure of distal ulna false Inferred relationship Existential restriction modifier (core metadata concept) 5
    Dyschondrosteose - Nephritis Associated morphology Dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 5
    Dyschondrosteose - Nephritis Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 5
    Dyschondrosteose - Nephritis Associated morphology Chronic inflammatory morphology (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator attribute value reference set (foundation metadata concept)

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