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773699009: Pitt Hopkins-like syndrome (disorder)


    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3725826018 Pitt Hopkins-like syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3725827010 Pitt Hopkins-like syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3725828017 A rare genetic syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal or mildly delayed motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
    3725829013 A rare genetic syndromic intellectual disability disorder characterised by severe intellectual disability, lack of speech with normal or mildly delayed motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behaviour and stereotypic movements are commonly associated. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Pitt Hopkins-like syndrome (disorder) localisation d'une constatation (attribut) structure de l'encéphale false Inferred relationship Some 2
    Pitt Hopkins-like syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 1
    Pitt Hopkins-like syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Pitt Hopkins-like syndrome (disorder) est un(e) (attribut) Intellectual disability false Inferred relationship Some
    Pitt Hopkins-like syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
    Pitt Hopkins-like syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature false Inferred relationship Some
    Pitt Hopkins-like syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 1
    Pitt Hopkins-like syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 1
    Pitt Hopkins-like syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system false Inferred relationship Some
    Pitt Hopkins-like syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 2
    Pitt Hopkins-like syndrome (disorder) est un(e) (attribut) trouble convulsif false Inferred relationship Some
    Pitt Hopkins-like syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder false Inferred relationship Some

    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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