FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

290028006: Genetic syndrome (disorder)


    Status: retired, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    430003015 Genetic syndrome en Synonym Active Case insensitive SNOMED CT core
    684544011 Genetic syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Genetic syndrome Is a Multisystem disorder false Inferred relationship Some
    Genetic syndrome Is a Hereditary disease false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Deoxyribonucleic acid instability syndrome Is a False Genetic syndrome Inferred relationship Some
    Maturity onset diabetes of the young, type 2 Associated with False Genetic syndrome Inferred relationship Some
    Hyperproinsulinaemia Associated with False Genetic syndrome Inferred relationship Some
    Diabetes-deafness syndrome maternally transmitted Associated with False Genetic syndrome Inferred relationship Some
    Impaired glucose tolerance associated with genetic syndrome Associated with False Genetic syndrome Inferred relationship Some
    Maturity onset diabetes mellitus in young Associated with False Genetic syndrome Inferred relationship Some
    Diabetes mellitus associated with genetic syndrome Associated with False Genetic syndrome Inferred relationship Some
    Polyglandular autoimmune syndrome, type 2 Associated with False Genetic syndrome Inferred relationship Some
    Rabson-Mendenhall syndrome Associated with False Genetic syndrome Inferred relationship Some
    Diabetes mellitus AND insipidus with optic atrophy AND deafness Associated with False Genetic syndrome Inferred relationship Some
    Insulin-dependent diabetes mellitus secretory diarrhoea syndrome Associated with False Genetic syndrome Inferred relationship Some
    Renal cysts and diabetes syndrome Associated with False Genetic syndrome Inferred relationship Some
    Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome Due to False Genetic syndrome Inferred relationship Some
    Laminopathy type Decaudain Vigouroux Due to False Genetic syndrome Inferred relationship Some
    Wolfram-like syndrome Due to False Genetic syndrome Inferred relationship Some

    Reference Sets

    Australian dialect reference set

    Concept inactivation indicator reference set

    Description inactivation indicator reference set

    SAME AS association reference set

    Back to Start