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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
    Congenital anomaly of jaw Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit vesikoureteral refluks Associated morphology False kongenit anomali Inferred relationship Some 1
    Atresia of pupil Associated morphology False kongenit anomali Inferred relationship Some 2
    Duplication seen only at prometaphase Associated morphology False kongenit anomali Inferred relationship Some
    Pharyngeal pituitary tissue Associated morphology False kongenit anomali Inferred relationship Some 2
    Benign congenital hypotonia Associated morphology False kongenit anomali Inferred relationship Some 1
    ufuldstændig ossifikation af centrum i cokcygealhvirvels corpus vertebrae Associated morphology False kongenit anomali Inferred relationship Some 1
    Andre specificerede anomalier i mavesækken Associated morphology False kongenit anomali Inferred relationship Some 1
    Dominant congenital ichthyosiform erythroderma Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenitte fosteranomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    anomali af perifere karsystem, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    dobbelt ureter Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomaly of chromosome pair 16 (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    Congenital anomaly of trunk Associated morphology False kongenit anomali Inferred relationship Some 1
    Bifid patella Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of renal pelvis Associated morphology False kongenit anomali Inferred relationship Some 1
    Sirenomeli-misfoster Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of membranous labyrinth Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomaly of chromosome pair 19 Associated morphology False kongenit anomali Inferred relationship Some
    Uterus bicornuatus vetularum Associated morphology False kongenit anomali Inferred relationship Some 1
    Pancreatic colipase deficiency Associated morphology False kongenit anomali Inferred relationship Some 1
    Hydromeningomyelocele Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Modified Johanson operation for claw toe with arthrodesis Direct morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of inner ear Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of digestive system Associated morphology False kongenit anomali Inferred relationship Some 1
    Endocardial fibroelastosis unassociated with other cardiac abnormalities. Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of female genital system Associated morphology False kongenit anomali Inferred relationship Some 1
    Pseudocoarctation of aorta (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital cardiospasm Associated morphology False kongenit anomali Inferred relationship Some 1
    2q partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some
    væksthæmmet embryon Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of stomach Associated morphology False kongenit anomali Inferred relationship Some 1
    10q partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Acrocephaly Associated morphology False kongenit anomali Inferred relationship Some 1
    Darier disease Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital stenosis of inferior vena cava Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of pituitary gland (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    XX males Associated morphology False kongenit anomali Inferred relationship Some
    Female pseudohermaphroditism Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of nervous system Associated morphology False kongenit anomali Inferred relationship Some 1
    A sex chromosome aneuploidy where males receive an additional Y chromosome, and with clinical characteristics of tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder. Associated morphology False kongenit anomali Inferred relationship Some
    6q partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Oculopharyngeal muscular dystrophy Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital skin fragility of animals Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital depression in skull Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital hyperplasia of intrahepatic bile duct Associated morphology False kongenit anomali Inferred relationship Some 2
    Cutaneous lesion resulting from spina bifida (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Acral Darier's disease (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Keratoderma med døvhed Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of macula Associated morphology False kongenit anomali Inferred relationship Some 1
    Klinefelter's syndrome, XXY (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    Pseudokryptorkisme Associated morphology False kongenit anomali Inferred relationship Some 1
    Ectopic gastric mucosa - multiple sites (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenitte labiale adhærencer Associated morphology False kongenit anomali Inferred relationship Some 2
    letalt hvidt syndrom hos føl Associated morphology False kongenit anomali Inferred relationship Some 1
    Axenfeld-Rieger syndrome (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Cochleate uterus Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida aperta of cervical spine (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    korrektion af kongenit deformitet i hofte, ikke nærmere specificeret Direct morphology False kongenit anomali Inferred relationship Some 1
    Release of pantalar joints for correction congenital deformity of foot Direct morphology False kongenit anomali Inferred relationship Some 2
    Wedge tarsectomy for correction congenital deformity of foot Direct morphology False kongenit anomali Inferred relationship Some 2
    Robinson nail dystrophy-deafness syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    kongnit uterusabnormitet, der komplicerer svangreomsorg, barn endnu ikke født Associated morphology False kongenit anomali Inferred relationship Some 1
    Riegers anomali Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida without hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 1
    Megalocornea Associated morphology False kongenit anomali Inferred relationship Some 1
    Specificeret anomali i synsnervepapil Associated morphology False kongenit anomali Inferred relationship Some 1
    Transposition af store kar, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Sammenvoksning af hjerteklapfligklapper, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some 1
    Andre aortaanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    andre anomalier af perifere vaskulære system Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital urethral valvular stricture Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital torticollis Associated morphology False kongenit anomali Inferred relationship Some 1
    Transverse deficiency of hand Associated morphology False kongenit anomali Inferred relationship Some 1
    Duplication of lower limb Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenitte anomalier i mave-tarm-kanalen, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital gingival granular cell tumor Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital urinary meatus obstruction (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Venous remnant Associated morphology False kongenit anomali Inferred relationship Some 1
    An autosomal anomaly with characteristics of variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinaemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals. Associated morphology False kongenit anomali Inferred relationship Some
    Congenital posterior urethral valves Associated morphology False kongenit anomali Inferred relationship Some 1
    corneastørrelse- eller corneaformanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital thickening of ischium Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other specified congenital malformations of eye Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenit uterusabnormitet, barn født Associated morphology False kongenit anomali Inferred relationship Some 1
    anomalier af cervix, vagina og ydre kvindelige kønsorganer, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Corneal size and shape anomalies Associated morphology False kongenit anomali Inferred relationship Some 1
    Incomplete ossification of frontal bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Duplication of external genitalia Associated morphology False kongenit anomali Inferred relationship Some 1
    Disorder of neuronal migration and differentiation (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    anden læbeanomali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    primær korrektion af kongenit deformitet i fod, ikke nærmere specificeret Direct morphology False kongenit anomali Inferred relationship Some 1
    Tidlig sekundær misdannelse i centralnervesystemet Associated morphology False kongenit anomali Inferred relationship Some 1
    Excision of limbus for congenital dislocation of the hip Direct morphology False kongenit anomali Inferred relationship Some 2
    Shelf procedure for congenital dislocation of the hip Direct morphology False kongenit anomali Inferred relationship Some 1
    [X]Congenital malformations and deformations of the musculoskeletal system Associated morphology False kongenit anomali Inferred relationship Some 1
    andre kongenitte anomalier af håndled Associated morphology False kongenit anomali Inferred relationship Some 1
    Anden specificeret spina bifida med hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 1
    Ansigtsspalte Associated morphology False kongenit anomali Inferred relationship Some 2
    A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibres. Type 1 muscle fibres are predominant compared to type 2 fibres, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported. Associated morphology False kongenit anomali Inferred relationship Some 1

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