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722003007: Intellectual disability with cataract and kyphosis syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3330097017 Intellectual disability with cataract and kyphosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3330098010 Intellectual disability with cataract and kyphosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3330096014 This syndrome has characteristics of severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence. The syndrome has been described in three siblings. The two brothers also presented with iris coloboma. Other clinical findings include contractures of large joints, bulbous nose with broad nasal bridge, and thick lips. The disease is linked to the pericentromeric region of chromosome 4. Transmission is autosomal recessive. 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
    Intellectual disability with cataract and kyphosis syndrome Is a Congenital kyphosis false Inferred relationship Some
    Intellectual disability with cataract and kyphosis syndrome Is a Congenital cataract false Inferred relationship Some
    Intellectual disability with cataract and kyphosis syndrome Is a Autosomal recessive hereditary disorder false Inferred relationship Some
    Intellectual disability with cataract and kyphosis syndrome Is a Mental retardation false Inferred relationship Some
    Intellectual disability with cataract and kyphosis syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
    Intellectual disability with cataract and kyphosis syndrome Is a Hereditary disorder of the visual system (disorder) false Inferred relationship Some
    Intellectual disability with cataract and kyphosis syndrome Associated morphology Congenital cataract false Inferred relationship Some 3
    Intellectual disability with cataract and kyphosis syndrome Occurrence Congenital false Inferred relationship Some 3
    Intellectual disability with cataract and kyphosis syndrome Finding site Lens clear false Inferred relationship Some 3
    Intellectual disability with cataract and kyphosis syndrome Associated morphology Abnormal curvature false Inferred relationship Some 4
    Intellectual disability with cataract and kyphosis syndrome Occurrence Congenital false Inferred relationship Some 4
    Intellectual disability with cataract and kyphosis syndrome Finding site Musculoskeletal structure of spine false Inferred relationship Some 4
    Intellectual disability with cataract and kyphosis syndrome Is a Intellectual disability false Inferred relationship Some
    Intellectual disability with cataract and kyphosis syndrome Is a Congenital anomaly of musculoskeletal system false Inferred relationship Some
    Intellectual disability with cataract and kyphosis syndrome Finding site Lens clear false Inferred relationship Some 1
    Intellectual disability with cataract and kyphosis syndrome Finding site Musculoskeletal structure of spine false Inferred relationship Some 2
    Intellectual disability with cataract and kyphosis syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Intellectual disability with cataract and kyphosis syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    Intellectual disability with cataract and kyphosis syndrome Occurrence Congenital false Inferred relationship Some 1
    Intellectual disability with cataract and kyphosis syndrome Is a Congenital anomaly of vertebral region of back false Inferred relationship Some
    Intellectual disability with cataract and kyphosis syndrome Associated morphology Abnormal curvature false Inferred relationship Some 2
    Intellectual disability with cataract and kyphosis syndrome Occurrence Congenital false Inferred relationship Some 2
    Intellectual disability with cataract and kyphosis syndrome Associated morphology Cataract false Inferred relationship Some 1
    Intellectual disability with cataract and kyphosis syndrome Is a Congenital deformity false Inferred relationship Some
    Intellectual disability with cataract and kyphosis syndrome Associated morphology Opacity false Inferred relationship Some 1
    Intellectual disability with cataract and kyphosis syndrome Is a Congenital deformity of spine false Inferred relationship Some
    Intellectual disability with cataract and kyphosis syndrome Is a Developmental hereditary disorder false Inferred relationship Some
    Intellectual disability with cataract and kyphosis syndrome Interprets Intellectual ability (observable entity) false Inferred relationship Some 3
    Intellectual disability with cataract and kyphosis syndrome Has interpretation Impaired false Inferred relationship Some 3
    Intellectual disability with cataract and kyphosis syndrome Interprets Adaptation behavior (observable entity) false Inferred relationship Some 4
    Intellectual disability with cataract and kyphosis syndrome Has interpretation Impaired false Inferred relationship Some 4
    Intellectual disability with cataract and kyphosis syndrome Associated morphology Anteroposterior abnormal curvature (morphologic abnormality) false Inferred relationship Some 2
    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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