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107656002: Congenital anomaly (morphologic abnormality)

    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
    2848101000005119 kongenit anomali da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    kongenit anomali Is a Morphologically abnormal structure false Inferred relationship Some
    kongenit anomali Is a dysgenese false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Atresia of anterior urethra Associated morphology False kongenit anomali Inferred relationship Some 1
    Granular cell hypoplasia Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital heart disease Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of thoracic vertebra Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other phakomatoses, not elsewhere classified Associated morphology False kongenit anomali Inferred relationship Some 1
    Mummified fetus Associated morphology False kongenit anomali Inferred relationship Some 1
    Lumpy scalp-syndrom Associated morphology False kongenit anomali Inferred relationship Some 1
    Left ventricular-right atrial communication Associated morphology False kongenit anomali Inferred relationship Some 1
    Abnormality of right superior vena cava Associated morphology False kongenit anomali Inferred relationship Some 1
    Lower moiety ureter of duplex kidney Associated morphology False kongenit anomali Inferred relationship Some 1
    Short preputial frenulum Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit muskuloskeletal deformitet, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some 1
    modermærke, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Dual coronary orifice Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit muskuloskeletal deformitet, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit deformitet i skulderblad, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some 1
    Transposition of aorta Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital abnormal shape of forepaw phalanx Associated morphology False kongenit anomali Inferred relationship Some 2
    anden kongenit leveranomali Associated morphology False kongenit anomali Inferred relationship Some 1
    Lumbar spina bifida without hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit anomali i urinveje Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of sacral vertebra Associated morphology False kongenit anomali Inferred relationship Some 1
    Netherton syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Tab af tandbuelængde som følge af kongenit manglende tænder Associated morphology False kongenit anomali Inferred relationship Some 1
    Uncombable hair syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other congenital functional disorders of colon Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital woolly hair Associated morphology False kongenit anomali Inferred relationship Some 1
    Neurocutaneous syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida with hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 3
    Thoracic spina bifida without hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of cerebral artery Associated morphology False kongenit anomali Inferred relationship Some 1
    Kromosom erstattet af ring eller dicentrisk Associated morphology False kongenit anomali Inferred relationship Some
    Dekstroposition af ductus arteriosus Associated morphology False kongenit anomali Inferred relationship Some 1
    manglende passage i oesophagus Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of supraoccipital bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomaly of chromosome pair 13 Associated morphology False kongenit anomali Inferred relationship Some
    Epispadias (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Persistent hyperplastic primary vitreous Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of endocrine gonad (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Aberrant course of left anterior descending coronary artery from right coronary artery crossing right ventricular outflow tract (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Congenital malformation of intestine, unspecified Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other specified trisomies and partial trisomies of autosomes Associated morphology False kongenit anomali Inferred relationship Some 1
    Thoracic spina bifida without hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit øreanomali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    anden kongenit lever- eller galdegangsanomali Associated morphology False kongenit anomali Inferred relationship Some 1
    Correction of congenital deformity of hindfoot (procedure) Direct morphology False kongenit anomali Inferred relationship Some 1
    Chromosomal alterations of group G and Y Associated morphology False kongenit anomali Inferred relationship Some
    Lack of ossification of presphenoid bone Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other congenital malformations of liver Associated morphology False kongenit anomali Inferred relationship Some 1
    nævus, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some 1
    Mosaic XO/XX Associated morphology False kongenit anomali Inferred relationship Some
    Uspecificeret muskelanomali Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Chromosomal abnormalities, not elsewhere classified Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomalous termination of right pulmonary vein Associated morphology False kongenit anomali Inferred relationship Some 1
    Mosaic XO/XY Associated morphology False kongenit anomali Inferred relationship Some
    Anomaly of sex chromosome Associated morphology False kongenit anomali Inferred relationship Some
    Cardiac septal defects Associated morphology False kongenit anomali Inferred relationship Some 2
    kongenit malposition i fordøjelsessystemet, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Correction of clubfoot (procedure) Direct morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of cerebrovascular system Associated morphology False kongenit anomali Inferred relationship Some 1
    Andre specificerede uterusanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anteversion of femur Associated morphology False kongenit anomali Inferred relationship Some 1
    Andre muskel-, sene- eller fascieanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Sacral spina bifida without hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit anomali i corpus vitreum Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of vomer Associated morphology False kongenit anomali Inferred relationship Some 1
    An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. Associated morphology False kongenit anomali Inferred relationship Some
    Congenital hypoplasia of spleen Associated morphology False kongenit anomali Inferred relationship Some 2
    andre kongenitte arm- eller benanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Abnormal liver lobulation Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of mouth (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Repair of claw toe Direct morphology False kongenit anomali Inferred relationship Some 1
    Upper moiety ureter of duplex kidney Associated morphology False kongenit anomali Inferred relationship Some 1
    Bregeat's syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Eccentric opening of aortic valve Associated morphology False kongenit anomali Inferred relationship Some 1
    Colour changes during tooth formation Associated morphology False kongenit anomali Inferred relationship Some 1
    anden anomali i sene, fascie eller muskel, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital abnormal shape of hindpaw phalanx Associated morphology False kongenit anomali Inferred relationship Some 2
    Intramural coronary artery course Associated morphology False kongenit anomali Inferred relationship Some 1
    Truncus arteriosus, Edwards' type IV Associated morphology False kongenit anomali Inferred relationship Some 1
    Atresi af arteria pulmonalis Associated morphology False kongenit anomali Inferred relationship Some 1
    Syringomyelobulbi Associated morphology False kongenit anomali Inferred relationship Some 1
    Cervical spina bifida without hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 2
    Flexural Darier's disease (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    [X]Other specified congenital malformations of digestive system Associated morphology False kongenit anomali Inferred relationship Some 1
    Arterial anomaly of umbilical cord Associated morphology False kongenit anomali Inferred relationship Some 1
    brankialfurerudiment, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Lack of ossification of scapula Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other deletions of part of a chromosome Associated morphology False kongenit anomali Inferred relationship Some 1
    Evans' operation Direct morphology False kongenit anomali Inferred relationship Some 1
    Klinefelters syndrom Associated morphology False kongenit anomali Inferred relationship Some
    Kongenit mandibulahypoplasi Associated morphology False kongenit anomali Inferred relationship Some 2
    Dysgenesis of the cerebellum Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital macrognathism Associated morphology False kongenit anomali Inferred relationship Some 2
    Uterus cordiformis Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenit anomali af øre Associated morphology False kongenit anomali Inferred relationship Some 1
    Makrocolon Associated morphology False kongenit anomali Inferred relationship Some 1
    Ectopic pancreas Associated morphology False kongenit anomali Inferred relationship Some 3
    [X]Other specified congenital malformations of intestine Associated morphology False kongenit anomali Inferred relationship Some 1
    Incomplete ossification of humerus Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of upper limb Associated morphology False kongenit anomali Inferred relationship Some 1

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    Reference Sets

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    REFERS TO concept association reference set

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