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107656002: congenitale anomalie (afwijkende morfologie)


    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    1190181000146119 aangeboren afwijking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    1190191000146117 congenitale anomalie (afwijkende morfologie) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    1829111000146118 congenitale anomalie nl Synonym (core metadata concept) Active Entire term case insensitive (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
    congenitale anomalie (afwijkende morfologie) Is a Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some
    congenitale anomalie (afwijkende morfologie) Is a gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Supernumerary heart valve cusps NEC Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Anomaly of pituitary gland NOS Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Congenital urethral valve Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Congenital partial portal-systemic shunt Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    correctie van congenitale deformiteit van bovenarm Direct morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Congenital myopathy with abnormal subcellular organelles Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    [X]Other congenital malformations of ureter Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Double inlet ventricle Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    [X]Other congenital malformations of the musculoskeletal system Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    [X]Other congenital deformities of chest Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Thoracoschisis Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Dysgenesis of lacrimal punctum (disorder) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Congenital stenosis of larynx, trachea and bronchus Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Other lung anomaly Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Endocrine gland anomaly NOS Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Other reduction deformity of brain NOS Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Unspecified spina bifida without hydrocephalus - closed Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Pulmonary tuberous sclerosis (disorder) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Annular pancreas Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 2
    Specified anomalies of sclera Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    syndroom van partiële monosomie 16q (aandoening) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some
    Other lung anomalies Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Lack of ossification of metacarpal bone Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Congenital anomaly of respiratory system Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Other specified lung agenesis, hypoplasia or dysplasia Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Double inlet left ventricle Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Left sided atrium connecting to both ventricles Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Other specified endocrine gland anomaly Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Congenital anomaly of scapula Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Congenital enlarged kidney Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Lack of ossification of maxilla (disorder) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Interrupted aortic arch between left subclavian and left common carotid artery Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Other congenital anomaly of penis NOS Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Double inlet right ventricle Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Juvenile pelvis Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Spina bifida NOS Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Congenital anomaly of lower respiratory system Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Sjögren-Larsson syndrome (disorder) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Duane's syndrome, type 2 Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Anomaly of chromosome pair 12 Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some
    Faun tail syndrome Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Anomaly of chromosome pair 22 Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some
    Criss-cross heart Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    foetus papyraceus - niet geboren Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Congenital generalized flexion contractures of lower limb joints Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 2
    Incomplete ossification of exoccipital bone Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Defect of telencephalic division Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Congenital anomaly of breast Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Lung agenesis, hypoplasia or dysplasia NOS Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Redundant prepuce Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Triphalangeal great toe Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Congenital heart anomaly NOS Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Abnormal relationship of right ventricle to left ventricle Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Lack of ossification of metatarsal bone Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Digestive system anomalies NOS Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Female Kallman's syndrome Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Bilateral deficient infundibula Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Agenesis of bronchus Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 2
    Palmar pitting due to Darier disease Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 2
    Congenital abnormality of external ear Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Failure of differentiation of bones of lower limb Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Congenital malformation of corpus callosum Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Anomaly of chromosome pair 4 Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some
    Nail dystrophy due to Darier's disease (disorder) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Xeroderma pigmentosum, group A Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Reduction anomaly of hypothalamus Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Congenital anomaly of alisphenoid bone Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Congenital thread-like tail Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 2
    Congenital anomaly of caudal vertebra Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Specified anomalies of choroid Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Trisomy 11 Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some
    Interrupted aortic arch distal to left subclavian artery Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Triploidy syndrome Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some
    Nervous system anomalies NOS Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Congenital anomaly of rib Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Lack of ossification of frontal bone Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Congenital renal failure Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Spina bifida without mention of hydrocephalus NOS Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Congenital abnormality of relationship of cardiac component Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Uterus subseptus Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Anomaly of great veins, unspecified Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Congenital absence of liver and/or gallbladder (disorder) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Abnormal atrioventricular connection - univentricular Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Congenital anomaly of metacarpal bone (disorder) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Trisomy 10 (disorder) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some
    Wolffian duct cyst - female Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    20p partial trisomy syndrome Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some
    Agyria Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Abnormal relationship of aortic orifice to pulmonary orifice Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Unspecified anomaly of ureter Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Duplication of lower limb bone Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Other dwarfing syndromes NOS Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Ring chromosome 10 syndrome Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some
    Other congenital upper alimentary tract anomalies Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Autosomal dominant familial woolly hair Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Congenital anomaly of hair Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Congenital flexion contracture of knee (disorder) Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Symmetrical dyschromatosis of extremities Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 2
    Neuroenteric cyst and associated malformation Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 1
    Whole chromosome trisomy, mosaicism Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some
    Branchial cleft cyst Associated morphology False congenitale anomalie (afwijkende morfologie) Inferred relationship Some 2

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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