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722065002: Okamoto 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
    3330445016 Okamoto syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3330446015 Okamoto syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3330447012 Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3330448019 Okamoto syndrome is characterized by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalized hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported. 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
    Okamoto syndrome Is a Congenital hydronephrosis false Inferred relationship Some
    Okamoto syndrome Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Some
    Okamoto syndrome Is a Cleft palate false Inferred relationship Some
    Okamoto syndrome Is a Mental retardation false Inferred relationship Some
    Okamoto syndrome Is a Growth retardation (disorder) false Inferred relationship Some
    Okamoto syndrome Occurrence Congenital false Inferred relationship Some 5
    Okamoto syndrome Associated morphology Congenital dilatation false Inferred relationship Some 7
    Okamoto syndrome Occurrence Congenital false Inferred relationship Some 7
    Okamoto syndrome Finding site Kidney structure false Inferred relationship Some 7
    Okamoto syndrome Associated morphology Obstruction false Inferred relationship Some 8
    Okamoto syndrome Finding site Renal collecting system structure false Inferred relationship Some 8
    Okamoto syndrome Occurrence Congenital false Inferred relationship Some 6
    Okamoto syndrome Finding site Renal collecting system structure false Inferred relationship Some 9
    Okamoto syndrome Associated morphology Congenital failure of fusion false Inferred relationship Some 6
    Okamoto syndrome Finding site Palatal structure false Inferred relationship Some 6
    Okamoto syndrome Associated morphology Developmental anomaly false Inferred relationship Some 5
    Okamoto syndrome Finding site Face structure false Inferred relationship Some 5
    Okamoto syndrome Associated morphology Dilatation false Inferred relationship Some 9
    Okamoto syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 1
    Okamoto syndrome Occurrence Congenital false Inferred relationship Some 1
    Okamoto syndrome Finding site Palatal structure false Inferred relationship Some 1
    Okamoto syndrome Is a Intellectual disability false Inferred relationship Some
    Okamoto syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
    Okamoto syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Okamoto syndrome Occurrence Congenital false Inferred relationship Some 2
    Okamoto syndrome Finding site Face structure false Inferred relationship Some 3
    Okamoto syndrome Finding site Kidney structure false Inferred relationship Some 1
    Okamoto syndrome Finding site Palatal structure false Inferred relationship Some 2
    Okamoto syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    Okamoto syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 3
    Okamoto syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 2
    Okamoto syndrome Associated morphology Congenital dilatation false Inferred relationship Some 1
    Okamoto syndrome Occurrence Congenital false Inferred relationship Some 3
    Okamoto syndrome Associated morphology Dilatation false Inferred relationship Some 1
    Okamoto syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
    Okamoto syndrome Associated morphology Obstruction false Inferred relationship Some 4
    Okamoto syndrome Finding site Renal collecting system structure false Inferred relationship Some 4
    Okamoto syndrome Finding site Renal collecting system structure false Inferred relationship Some 1
    Okamoto syndrome Occurrence Congenital false Inferred relationship Some 4
    Okamoto syndrome Finding site Bone structure of head false Inferred relationship Some 4
    Okamoto syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 4
    Okamoto syndrome Associated morphology Growth retardation false Inferred relationship Some 5
    Okamoto syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 5
    Okamoto syndrome Interprets Intellectual ability (observable entity) false Inferred relationship Some 4
    Okamoto syndrome Has interpretation Impaired false Inferred relationship Some 4
    Okamoto syndrome Interprets Adaptation behavior (observable entity) false Inferred relationship Some 6
    Okamoto syndrome Has interpretation Impaired false Inferred relationship Some 6
    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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