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77128003: DiGeorge-syndroom (aandoening)


    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    128043015 DiGeorge sequence en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    128044014 Agenesis of the parathyroid AND thymus glands en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    128045010 Third AND fourth pharyngeal pouch syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    128046011 Thymic hypoplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    128047019 Pharyngeal pouch syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    128049016 Thymic-parathyroid aplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    128050016 DiGeorge syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    128053019 Third AND fourth pharyngeal arch syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    817924013 DiGeorge sequence (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
    1234064012 Branchial arch syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    1234065013 DiGeorge anomaly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    55111000146115 syndroom van DiGeorge nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    1892631000146116 DiGeorge-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    1892641000146112 DiGeorge-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    DiGeorge-syndroom (aandoening) Is a Congenital anomaly of the thymus false Inferred relationship Some
    DiGeorge-syndroom (aandoening) Is a Multisystem disorder C-D (navigational concept) false Inferred relationship Some
    DiGeorge-syndroom (aandoening) Is a Malformation sequence false Inferred relationship Some
    DiGeorge-syndroom (aandoening) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 1
    DiGeorge-syndroom (aandoening) Finding site Structure of third pharyngeal pouch false Inferred relationship Some 1
    DiGeorge-syndroom (aandoening) Finding site Parathyroid structure false Inferred relationship Some 2
    DiGeorge-syndroom (aandoening) Associated morphology Hypoplasia false Inferred relationship Some 2
    DiGeorge-syndroom (aandoening) Occurrence Congenital false Inferred relationship Some
    DiGeorge-syndroom (aandoening) Finding site Fourth pharyngeal pouch structure (body structure) false Inferred relationship Some 1
    DiGeorge-syndroom (aandoening) Finding site Thymus gland structure (body structure) false Inferred relationship Some 3
    DiGeorge-syndroom (aandoening) Is a multisysteemaandoening false Inferred relationship Some
    DiGeorge-syndroom (aandoening) Is a Congenital anomaly of parathyroid glands false Inferred relationship Some
    DiGeorge-syndroom (aandoening) Is a Congenital anomaly of neck false Inferred relationship Some
    DiGeorge-syndroom (aandoening) Is a Congenital anomaly of endocrine gland false Inferred relationship Some
    DiGeorge-syndroom (aandoening) Is a Disorder of parathyroid gland (disorder) false Inferred relationship Some
    DiGeorge-syndroom (aandoening) Is a Lesion of neck false Inferred relationship Some
    DiGeorge-syndroom (aandoening) Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 3
    DiGeorge-syndroom (aandoening) Finding site Thymus gland structure (body structure) false Inferred relationship Some 3
    DiGeorge-syndroom (aandoening) Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 3
    DiGeorge-syndroom (aandoening) Finding site Structure of third pharyngeal pouch false Inferred relationship Some 1
    DiGeorge-syndroom (aandoening) Finding site Fourth pharyngeal pouch structure (body structure) false Inferred relationship Some 1
    DiGeorge-syndroom (aandoening) Associated morphology Hypoplasia false Inferred relationship Some 2
    DiGeorge-syndroom (aandoening) Finding site Parathyroid structure false Inferred relationship Some 2
    DiGeorge-syndroom (aandoening) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 1
    DiGeorge-syndroom (aandoening) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 4
    DiGeorge-syndroom (aandoening) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 5
    DiGeorge-syndroom (aandoening) Finding site Fourth pharyngeal pouch structure (body structure) false Inferred relationship Some 4
    DiGeorge-syndroom (aandoening) Finding site Structure of third pharyngeal pouch false Inferred relationship Some 5
    DiGeorge-syndroom (aandoening) Is a Disorder of embryonic structure (disorder) false Inferred relationship Some
    DiGeorge-syndroom (aandoening) Occurrence Congenital false Inferred relationship Some 1
    DiGeorge-syndroom (aandoening) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 1
    DiGeorge-syndroom (aandoening) Finding site Thymus gland structure (body structure) false Inferred relationship Some 1

    Inbound Relationships Type Active Source Characteristic Refinability Group
    22q11 microdeletion with complete DiGeorge sequence Is a False DiGeorge-syndroom (aandoening) Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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