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783559007: Reunion Island Larsen-like syndrome (disorder)

    Status: retired, Primitive. 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 Case sensitive SNOMED CT core
    3759349018 Reunion Island Larsen-like syndrome en Synonym Active Case sensitive SNOMED CT core
    3759350018 Multiple joint dislocations, short stature, hyperlaxity, craniofacial dysmorphism syndrome en Synonym Active Case insensitive 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 Case sensitive 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 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 Pathological developmental process false Inferred relationship Some 2
    Reunion Island Larsen-like syndrome Pathological process Pathological developmental process false Inferred relationship Some 1
    Reunion Island Larsen-like syndrome Is a Glycoprotein metabolism disorder 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 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 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 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 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 false Inferred relationship Some 5
    Reunion Island Larsen-like syndrome Is a Congenital dislocation of joint 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

    Description inactivation indicator reference set

    REPLACED BY association reference set

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