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722065002: Okamoto-syndroom (aandoening)

    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
    6705451000146118 syndroom van Okamoto nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    6705461000146115 Okamoto-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    8662641000146110 syndroom van Okamoto (aandoening) nl Fully specified name Inactive Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    10671411000146113 Okamoto-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    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-syndroom Is a Congenital hydronephrosis false Inferred relationship Some
    Okamoto-syndroom Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Some
    Okamoto-syndroom Is a Cleft palate false Inferred relationship Some
    Okamoto-syndroom Is a mentale retardatie false Inferred relationship Some
    Okamoto-syndroom Is a Growth retardation (disorder) false Inferred relationship Some
    Okamoto-syndroom Occurrence Congenital false Inferred relationship Some 5
    Okamoto-syndroom Associated morphology congenitale dilatatie (afwijkende morfologie) false Inferred relationship Some 7
    Okamoto-syndroom Occurrence Congenital false Inferred relationship Some 7
    Okamoto-syndroom Finding site Kidney structure false Inferred relationship Some 7
    Okamoto-syndroom Associated morphology Obstruction false Inferred relationship Some 8
    Okamoto-syndroom Finding site Renal collecting system structure false Inferred relationship Some 8
    Okamoto-syndroom Occurrence Congenital false Inferred relationship Some 6
    Okamoto-syndroom Finding site Renal collecting system structure false Inferred relationship Some 9
    Okamoto-syndroom Associated morphology Congenital failure of fusion false Inferred relationship Some 6
    Okamoto-syndroom Finding site Palatal structure false Inferred relationship Some 6
    Okamoto-syndroom Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 5
    Okamoto-syndroom Finding site Face structure false Inferred relationship Some 5
    Okamoto-syndroom Associated morphology Dilatation false Inferred relationship Some 9
    Okamoto-syndroom Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 1
    Okamoto-syndroom Occurrence Congenital false Inferred relationship Some 1
    Okamoto-syndroom Finding site Palatal structure false Inferred relationship Some 1
    Okamoto-syndroom Is a Intellectual disability false Inferred relationship Some
    Okamoto-syndroom Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
    Okamoto-syndroom Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Okamoto-syndroom Occurrence Congenital false Inferred relationship Some 2
    Okamoto-syndroom Finding site Face structure false Inferred relationship Some 3
    Okamoto-syndroom Finding site Kidney structure false Inferred relationship Some 1
    Okamoto-syndroom Finding site Palatal structure false Inferred relationship Some 2
    Okamoto-syndroom Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    Okamoto-syndroom Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 3
    Okamoto-syndroom Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 2
    Okamoto-syndroom Associated morphology congenitale dilatatie (afwijkende morfologie) false Inferred relationship Some 1
    Okamoto-syndroom Occurrence Congenital false Inferred relationship Some 3
    Okamoto-syndroom Associated morphology Dilatation false Inferred relationship Some 1
    Okamoto-syndroom Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
    Okamoto-syndroom Associated morphology Obstruction false Inferred relationship Some 4
    Okamoto-syndroom Finding site Renal collecting system structure false Inferred relationship Some 4
    Okamoto-syndroom Finding site Renal collecting system structure false Inferred relationship Some 1
    Okamoto-syndroom Occurrence Congenital false Inferred relationship Some 4
    Okamoto-syndroom Finding site Bone structure of head false Inferred relationship Some 4
    Okamoto-syndroom Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 4
    Okamoto-syndroom Associated morphology Growth retardation false Inferred relationship Some 5
    Okamoto-syndroom Pathological process (attribute) Pathological developmental process false Inferred relationship Some 5
    Okamoto-syndroom Interprets Intellectual ability (observable entity) false Inferred relationship Some 4
    Okamoto-syndroom Has interpretation Impaired false Inferred relationship Some 4
    Okamoto-syndroom Interprets Adaptation behavior (observable entity) false Inferred relationship Some 6
    Okamoto-syndroom 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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