FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

45525000: 16q 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
    75904016 16q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    782774015 16q 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
    16q partial trisomy syndrome Is a Trisomy and partial trisomy of autosome false Inferred relationship Some
    16q partial trisomy syndrome Is a Anomaly of chromosome pair 16 false Inferred relationship Some
    16q partial trisomy syndrome Finding site Chromosome pair 16 false Inferred relationship Some 1
    16q partial trisomy syndrome Finding site Sex chromosome false Inferred relationship Some
    16q partial trisomy syndrome Associated morphology Alteration of chromosome structure false Inferred relationship Some
    16q partial trisomy syndrome Associated morphology Trisomy false Inferred relationship Some
    16q partial trisomy syndrome Occurrence Congenital false Inferred relationship Some
    16q partial trisomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some 1
    16q partial trisomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some
    16q partial trisomy syndrome Finding site Chromosome pair 16 false Inferred relationship Some 1
    16q partial trisomy syndrome Occurrence Congenital false Inferred relationship Some 1
    16q partial trisomy syndrome Finding site Chromosome pair 16 false Inferred relationship Some 1
    16q partial trisomy syndrome Associated morphology Partial trisomy false Inferred relationship Some 1
    16q partial trisomy syndrome Is a Partial trisomy of chromosome 16 false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (including high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported. Is a False 16q partial trisomy syndrome Inferred relationship Some
    Proximal duplication of long arm of chromosome 16 (disorder) Is a False 16q partial trisomy syndrome Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

    Back to Start