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770719004: 3q27.3 microdeletion syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2025. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3702235017 3q27.3 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3702236016 3q27.3 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3702237013 A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3. The syndrome has characteristics of mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
    5404887016 3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    5404888014 3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterised by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. 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
    3q27.3 microdeletion syndrome Is a Deletion of part of long arm of chromosome 3 (disorder) false Inferred relationship Some
    3q27.3 microdeletion syndrome Is a Autosomal dominant hereditary disorder false Inferred relationship Some
    3q27.3 microdeletion syndrome Is a Intellectual disability false Inferred relationship Some
    3q27.3 microdeletion syndrome Occurrence Congenital false Inferred relationship Some 1
    3q27.3 microdeletion syndrome Occurrence Congenital false Inferred relationship Some 2
    3q27.3 microdeletion syndrome Occurrence Congenital false Inferred relationship Some 3
    3q27.3 microdeletion syndrome Finding site Chromosome pair 3 false Inferred relationship Some 3
    3q27.3 microdeletion syndrome Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Some
    3q27.3 microdeletion syndrome Associated morphology Deletion of long arm false Inferred relationship Some 3
    3q27.3 microdeletion syndrome Associated morphology Partial monosomy (morphologic abnormality) false Inferred relationship Some 1
    3q27.3 microdeletion syndrome Finding site Chromosome pair 3 false Inferred relationship Some 1
    3q27.3 microdeletion syndrome Finding site Face structure false Inferred relationship Some 2
    3q27.3 microdeletion syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 2
    3q27.3 microdeletion syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    3q27.3 microdeletion syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
    3q27.3 microdeletion syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    3q27.3 microdeletion syndrome Is a Developmental hereditary disorder false Inferred relationship Some
    3q27.3 microdeletion syndrome Finding site Long arm of chromosome false Inferred relationship Some 3
    3q27.3 microdeletion syndrome Associated morphology Partial monosomy (morphologic abnormality) false Inferred relationship Some 3
    3q27.3 microdeletion syndrome Interprets Intellectual ability (observable entity) false Inferred relationship Some 4
    3q27.3 microdeletion syndrome Has interpretation Impaired false Inferred relationship Some 4
    3q27.3 microdeletion syndrome Interprets Adaptation behavior (observable entity) false Inferred relationship Some 5
    3q27.3 microdeletion syndrome Has interpretation Impaired false Inferred relationship Some 5
    3q27.3 microdeletion syndrome Is a Genetic intellectual disability false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Component annotation with string value reference set (foundation metadata concept)

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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