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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
    13q partial monosomy syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Shwachman syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    Turner syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Congenital abnormality of thoracic aorta and pulmonary arteries Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital cyst of mediastinum Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital hypoplasia of pancreas Associated morphology False kongenit anomali Inferred relationship Some 2
    Bonnevie-Ullrichs syndrom, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some
    Congenital anomaly of peripheral nerve Associated morphology False kongenit anomali Inferred relationship Some 1
    Aortic tunnel Associated morphology False kongenit anomali Inferred relationship Some 1
    andre tarmanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Cryptotia (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Pelvic osteotomy for congenital deformity of hip Direct morphology False kongenit anomali Inferred relationship Some 1
    Shelf procedure for congenital dislocation of the hip Direct morphology False kongenit anomali Inferred relationship Some 1
    Medullær cystenyre, nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Downs syndrom, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some
    Femoral osteotomy for correction of congenital deformity of hip Direct morphology False kongenit anomali Inferred relationship Some 1
    Correction of congenital deformity of lower limb (procedure) Direct morphology False kongenit anomali Inferred relationship Some 1
    Edwards syndrom, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some
    Excision of anlage of fibula Direct morphology False kongenit anomali Inferred relationship Some 2
    Pataus syndrom, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some
    Turner's phenotype - ring chromosome karyotype Associated morphology False kongenit anomali Inferred relationship Some
    Excision of anlage of tibia Direct morphology False kongenit anomali Inferred relationship Some 2
    Aganglionosis of Auerbach's plexus Associated morphology False kongenit anomali Inferred relationship Some 1
    Renal pelvis and ureter obstructive defects Associated morphology False kongenit anomali Inferred relationship Some 1
    Prominent valve of inferior vena cava Associated morphology False kongenit anomali Inferred relationship Some 1
    andre pharynxanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Andre specificerede anomalier i diaphragma Associated morphology False kongenit anomali Inferred relationship Some 1
    Preauricular fistula Associated morphology False kongenit anomali Inferred relationship Some 2
    Fibrolipoma of filum terminale (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Discordant ventriculoarterial connection Associated morphology False kongenit anomali Inferred relationship Some 1
    Andre tarmanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Talipes calcaneovarus Associated morphology False kongenit anomali Inferred relationship Some 3
    Trisomy 13, meiotic nondisjunction Associated morphology False kongenit anomali Inferred relationship Some
    Pancreas divisum - complete (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Trisomy 18 - meiotic nondisjunction Associated morphology False kongenit anomali Inferred relationship Some
    Hypoplasia of cardiac vein Associated morphology False kongenit anomali Inferred relationship Some 2
    Trisomy 21- meiotic nondisjunction Associated morphology False kongenit anomali Inferred relationship Some
    korrektion af kongenit deformitet i hofte, ikke nærmere specificeret Direct morphology False kongenit anomali Inferred relationship Some 1
    Pancreasanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Andre specificerede pancreasanomalier Associated morphology False kongenit anomali Inferred relationship Some 2
    Aortic root congenital abnormality Associated morphology False kongenit anomali Inferred relationship Some 1
    10p partial monosomy syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Trisomy 18 - mitotic nondisjunction mosaicism Associated morphology False kongenit anomali Inferred relationship Some
    8q partial monosomy syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Persistent cerebral embryonic artery Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of aortic arch Associated morphology False kongenit anomali Inferred relationship Some 1
    Ash leaf spot, tuberous sclerosis Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of fallopian tubes Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital vascular disorder (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Turners fænotype, andre variante karyotyper Associated morphology False kongenit anomali Inferred relationship Some
    Cobb's syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of skeletal muscle Associated morphology False kongenit anomali Inferred relationship Some 1
    Pleuropericardial cyst Associated morphology False kongenit anomali Inferred relationship Some 2
    Cervical thymic remnant Associated morphology False kongenit anomali Inferred relationship Some 2
    Kommerell's diverticulum Associated morphology False kongenit anomali Inferred relationship Some 1
    Bregeat's syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital pancreatic trypsin deficiency Associated morphology False kongenit anomali Inferred relationship Some 2
    Complete trisomy 18 syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Café-au-lait-pletter og ringkromosom 11 Associated morphology False kongenit anomali Inferred relationship Some
    Primær seboré Associated morphology False kongenit anomali Inferred relationship Some 1
    Dextraposition of aorta in Fallot's tetralogy Associated morphology False kongenit anomali Inferred relationship Some 2
    Anomalier af øvre fordøjelseskanal, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    partiel monosomi 9p-syndrom Associated morphology False kongenit anomali Inferred relationship Some
    Triple pelvic osteotomy for congenital dislocation of the hip Direct morphology False kongenit anomali Inferred relationship Some 1
    anden specificeret korrektion af kongenit deformitet i hofte Direct morphology False kongenit anomali Inferred relationship Some 1
    lokaliseret hudatrofi på abdominalvæggen Associated morphology False kongenit anomali Inferred relationship Some 2
    Spinal dysgenesis (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    1q partial monosomy Associated morphology False kongenit anomali Inferred relationship Some
    Pancreas divisum Associated morphology False kongenit anomali Inferred relationship Some 2
    arteria pulmonalis-anomali, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital hereditary endothelial dystrophy (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    Congenital anomaly of blood vessel of upper limb (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Exstrophy of cloaca sequence Associated morphology False kongenit anomali Inferred relationship Some 2
    Correction of congenital deformity of hip Direct morphology False kongenit anomali Inferred relationship Some 1
    13q partial trisomy syndrome (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    Mosaicism 45, X; 46, XX Associated morphology False kongenit anomali Inferred relationship Some
    Double outlet left ventricle Associated morphology False kongenit anomali Inferred relationship Some 1
    anden specificeret anomali af øvre fordøjelseskanal Associated morphology False kongenit anomali Inferred relationship Some 1
    Pancreas divisum - incomplete (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Turners syndrom, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some
    Dextrotransposition of aorta (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    An autosomal anomaly with characteristics of variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. Associated morphology False kongenit anomali Inferred relationship Some
    Complete trisomy 21 syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Præaurikulær sinus og fistel Associated morphology False kongenit anomali Inferred relationship Some 3
    11q partial monosomy syndrome Associated morphology False kongenit anomali Inferred relationship Some
    obstruktiv defekt i pelvis renalis eller ureter, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. Associated morphology False kongenit anomali Inferred relationship Some
    Turners syndrom, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some
    10q partial monosomy (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    Trisomy 13 - mitotic nondisjunction mosaicism Associated morphology False kongenit anomali Inferred relationship Some
    uspecificeret hjerteklapanomali Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital malformation of pancreas Associated morphology False kongenit anomali Inferred relationship Some 2
    Trisomy 21- mitotic nondisjunction mosaicism Associated morphology False kongenit anomali Inferred relationship Some
    mangelfuld udvikling af cauda equina Associated morphology False kongenit anomali Inferred relationship Some 2
    præaurikulær sinus, fordybning eller fistel Associated morphology False kongenit anomali Inferred relationship Some 1
    Proximal femoral osteotomy for correction of congenital dislocation of the hip Direct morphology False kongenit anomali Inferred relationship Some 2
    Cyclops hypognathus Associated morphology False kongenit anomali Inferred relationship Some 1
    Epstein's pearl of palate (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Præaurikulær sinus Associated morphology False kongenit anomali Inferred relationship Some 2
    Opocephalus Associated morphology False kongenit anomali Inferred relationship Some 1
    Leydig cell agenesis Associated morphology False kongenit anomali Inferred relationship Some 2

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    REFERS TO concept association reference set

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