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783559007: Reunion Island Larsen-like syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3759348014 Reunion Island Larsen-like syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3759349018 Reunion Island Larsen-like syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3759350018 Multiple joint dislocations, short stature, hyperlaxity, craniofacial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3759351019 A rare genetic congenital disorder of glycosylation with characteristics of severe pre and post-natal short stature, joint hyperlaxity with multiple dislocations (elbows, fingers, hips, knees), and facial dysmorphism (round flat face, high forehead, hypertelorism, prominent bulging eyes with under-eye shadows, hypoplastic midface, microstomia, protruding lips). Other associated features may include cutaneous hyperextensibility, learning difficulties and ocular abnormalities. Advanced carpal ossification, widened metaphyses, and, occasionally, radioulnar synostosis, scoliosis and a Swedish key appearance of the proximal femora is observed on imaging. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Reunion Island Larsen-like syndrome Is a Autosomal recessive hereditary disorder false Inferred relationship Some
    Reunion Island Larsen-like syndrome Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Some
    Reunion Island Larsen-like syndrome Is a Multiple dislocations with dysplasia (disorder) false Inferred relationship Some
    Reunion Island Larsen-like syndrome Is a Chronic metabolic disorder false Inferred relationship Some
    Reunion Island Larsen-like syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    Reunion Island Larsen-like syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Reunion Island Larsen-like syndrome Is a Disorder of glycoprotein metabolism false Inferred relationship Some
    Reunion Island Larsen-like syndrome Occurrence Congenital false Inferred relationship Some 1
    Reunion Island Larsen-like syndrome Is a Congenital anomaly of joint false Inferred relationship Some
    Reunion Island Larsen-like syndrome Is a Short stature disorder false Inferred relationship Some
    Reunion Island Larsen-like syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
    Reunion Island Larsen-like syndrome Occurrence Congenital false Inferred relationship Some 3
    Reunion Island Larsen-like syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
    Reunion Island Larsen-like syndrome Occurrence Congenital false Inferred relationship Some 2
    Reunion Island Larsen-like syndrome Finding site Skeletal system structure false Inferred relationship Some 1
    Reunion Island Larsen-like syndrome Finding site Joint structure of multiple body sites (body structure) false Inferred relationship Some 3
    Reunion Island Larsen-like syndrome Finding site Face structure false Inferred relationship Some 2
    Reunion Island Larsen-like syndrome Clinical course Progressive (qualifier value) false Inferred relationship Some 4
    Reunion Island Larsen-like syndrome Associated morphology Dysplasia false Inferred relationship Some 1
    Reunion Island Larsen-like syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 2
    Reunion Island Larsen-like syndrome Associated morphology Dislocation false Inferred relationship Some 3
    Reunion Island Larsen-like syndrome Due to Spontaneous event (event) false Inferred relationship Some 5
    Reunion Island Larsen-like syndrome Is a Congenital dislocation of joint (disorder) false Inferred relationship Some
    Reunion Island Larsen-like syndrome Is a Developmental hereditary disorder false Inferred relationship Some
    Reunion Island Larsen-like syndrome Interprets Height / growth measure false Inferred relationship Some 6
    Reunion Island Larsen-like syndrome Associated morphology Damage false Inferred relationship Some 7
    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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