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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
    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 Active 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 Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3396881001000118 Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    3396881001000118 Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien Is a Intelligenzminderung false Inferred relationship Existential restriction modifier (core metadata concept)
    Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Existential restriction modifier (core metadata concept)
    Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien Is a Seizure disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien Is a Developmental hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator attribute value reference set (foundation metadata concept)

    REPLACED BY association reference set (foundation metadata concept)

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