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36608002: 16q partial monosomy syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    61093012 16q partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    768380014 16q partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    16q partial monosomy syndrome Is a Deletion of part of autosome false Inferred relationship Some
    16q partial monosomy syndrome Is a Anomaly of chromosome pair 16 false Inferred relationship Some
    16q partial monosomy syndrome Finding site Chromosome pair 16 false Inferred relationship Some 1
    16q partial monosomy syndrome Finding site Sex chromosome false Inferred relationship Some
    16q partial monosomy syndrome Occurrence Congenital false Inferred relationship Some
    16q partial monosomy syndrome Associated morphology Deletion of long arm false Inferred relationship Some
    16q partial monosomy syndrome Associated morphology Monosomy false Inferred relationship Some
    16q partial monosomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some 1
    16q partial monosomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some
    16q partial monosomy syndrome Finding site Chromosome pair 16 false Inferred relationship Some 1
    16q partial monosomy syndrome Occurrence Congenital false Inferred relationship Some 2
    16q partial monosomy syndrome Occurrence Congenital false Inferred relationship Some 1
    16q partial monosomy syndrome Finding site Chromosome pair 16 false Inferred relationship Some 1
    16q partial monosomy syndrome Finding site Chromosome pair 16 false Inferred relationship Some 2
    16q partial monosomy syndrome Associated morphology Partial monosomy (morphologic abnormality) false Inferred relationship Some 1
    16q partial monosomy syndrome Associated morphology Deletion of long arm false Inferred relationship Some 2
    16q partial monosomy syndrome Is a Deletion of part of chromosome 16 (disorder) false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. Is a False 16q partial monosomy syndrome Inferred relationship Some
    A partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects). Is a False 16q partial monosomy syndrome Inferred relationship Some
    Distal deletion of long arm of chromosome 16 Is a False 16q partial monosomy syndrome Inferred relationship Some
    Proximal deletion of long arm of chromosome 16 (disorder) Is a False 16q partial monosomy syndrome Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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