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88326002: 16p partial trisomy 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
    146436018 16p partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    830986019 16p partial trisomy 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
    16p partial trisomy syndrome Is a Anomaly of chromosome pair 16 false Inferred relationship Some
    16p partial trisomy syndrome Is a Trisomy and partial trisomy of autosome false Inferred relationship Some
    16p partial trisomy syndrome Associated morphology Alteration of chromosome structure false Inferred relationship Some
    16p partial trisomy syndrome Associated morphology Trisomy false Inferred relationship Some
    16p partial trisomy syndrome Finding site Sex chromosome false Inferred relationship Some
    16p partial trisomy syndrome Finding site Chromosome pair 16 false Inferred relationship Some 1
    16p partial trisomy syndrome Occurrence Congenital false Inferred relationship Some
    16p partial trisomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some 1
    16p partial trisomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some
    16p partial trisomy syndrome Finding site Chromosome pair 16 false Inferred relationship Some 1
    16p partial trisomy syndrome Occurrence Congenital false Inferred relationship Some 1
    16p partial trisomy syndrome Finding site Chromosome pair 16 false Inferred relationship Some 1
    16p partial trisomy syndrome Associated morphology Partial trisomy false Inferred relationship Some 1
    16p partial trisomy syndrome Is a Partial trisomy of chromosome 16 false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. Is a False 16p partial trisomy syndrome Inferred relationship Some
    16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems. Is a False 16p partial trisomy syndrome Inferred relationship Some
    16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described. Is a False 16p partial trisomy syndrome Inferred relationship Some
    Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life. Is a False 16p partial trisomy syndrome Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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