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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
    Thoracic spina bifida with hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 2
    Lissencephaly Associated morphology False kongenit anomali Inferred relationship Some 1
    Single congenital cerebral cyst Associated morphology False kongenit anomali Inferred relationship Some 1
    Multiple congenital cerebral cysts Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital abnormality of Eustachian tube Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital stenosis of eustachian tube Associated morphology False kongenit anomali Inferred relationship Some 1
    Præaurikulær sinus Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital deformity of spine Associated morphology False kongenit anomali Inferred relationship Some 2
    Trisomy 21- meiotic nondisjunction Associated morphology False kongenit anomali Inferred relationship Some 2
    Trisomy 21- mitotic nondisjunction mosaicism Associated morphology False kongenit anomali Inferred relationship Some 2
    Trisomy 13, meiotic nondisjunction Associated morphology False kongenit anomali Inferred relationship Some 1
    Trisomy 13 - mitotic nondisjunction mosaicism Associated morphology False kongenit anomali Inferred relationship Some 1
    Trisomy 18 - meiotic nondisjunction Associated morphology False kongenit anomali Inferred relationship Some 2
    Trisomy 18 - mitotic nondisjunction mosaicism Associated morphology False kongenit anomali Inferred relationship Some 2
    Monosomy and deletion from autosome Associated morphology False kongenit anomali Inferred relationship Some 1
    Deletion seen only at prometaphase Associated morphology False kongenit anomali Inferred relationship Some 1
    Whole chromosome monosomy - meiotic nondisjunction Associated morphology False kongenit anomali Inferred relationship Some 1
    Monosomy 21, mosaicism Associated morphology False kongenit anomali Inferred relationship Some 1
    Major partial trisomy Associated morphology False kongenit anomali Inferred relationship Some 1
    Minor partial trisomy Associated morphology False kongenit anomali Inferred relationship Some 1
    Duplication seen only at prometaphase Associated morphology False kongenit anomali Inferred relationship Some 1
    Duplication with other complex rearrangement Associated morphology False kongenit anomali Inferred relationship Some 1
    Ekstra markørkromosom Associated morphology False kongenit anomali Inferred relationship Some 1
    Chromosome inversion in normal individual Associated morphology False kongenit anomali Inferred relationship Some 1
    Balanced autosomal rearrangement in abnormal individual Associated morphology False kongenit anomali Inferred relationship Some 1
    Balanced sex/autosomal rearrangement in abnormal individual Associated morphology False kongenit anomali Inferred relationship Some 1
    Individual with marker heterochromatin Associated morphology False kongenit anomali Inferred relationship Some 1
    Individual with autosomal fragile site Associated morphology False kongenit anomali Inferred relationship Some 1
    Karyotype 46, X iso (Xq) Associated morphology False kongenit anomali Inferred relationship Some 1
    Karyotype 46, X with abnormal sex chromosome except iso (Xq) Associated morphology False kongenit anomali Inferred relationship Some 1
    mosaicisme 45, X/anden cellelinje med abnormt kønskromosom Associated morphology False kongenit anomali Inferred relationship Some 1
    Klinefelter syndrome, male with 46,XX karyotype (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Chimera 46, XX; 46, XY Associated morphology False kongenit anomali Inferred relationship Some 1
    46, XX ægte hermafrodit Associated morphology False kongenit anomali Inferred relationship Some 1
    Fragile X chromosome Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital cyst of adrenal gland Associated morphology False kongenit anomali Inferred relationship Some 2
    akrocefalopolysyndaktyli Associated morphology False kongenit anomali Inferred relationship Some 1
    Spinobulbær atrofi Associated morphology False kongenit anomali Inferred relationship Some 1
    ektopisk thyroideavæv Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital hypothyroidism with ectopic thyroid Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital mandibular asymmetry Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital horizontal mandibular hyperplasia Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital vertical mandibular hyperplasia Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital transverse mandibular hyperplasia Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital alveolar hyperplasia of mandible Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital horizontal mandibular hypoplasia Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital vertical mandibular hypoplasia Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital transverse mandibular hypoplasia Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital alveolar hypoplasia of mandible Associated morphology False kongenit anomali Inferred relationship Some 2
    21q partial distal trisomy (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    21q partial trisomy (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital polyneuropathy Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenit neuropati med kongenit multipel artrogrypose Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenit neuropati med kongenit multipel artrogrypose Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital hypomyelinating neuropathy Associated morphology False kongenit anomali Inferred relationship Some 1
    Late congenital syphilitic polyneuropathy Associated morphology False kongenit anomali Inferred relationship Some 1
    Sene sekundære abnormiteter i centralnervesystemet Associated morphology False kongenit anomali Inferred relationship Some 1
    Multicystic encephalomalacia Associated morphology False kongenit anomali Inferred relationship Some 1
    Periventricular leucomalacia Associated morphology False kongenit anomali Inferred relationship Some 1
    Neuronal choristoma Associated morphology False kongenit anomali Inferred relationship Some 1
    Universelt fibrosesyndrom Associated morphology False kongenit anomali Inferred relationship Some 2
    Strabismus fixus Associated morphology False kongenit anomali Inferred relationship Some 1
    Vertical retraction syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital cholesteatoma Associated morphology False kongenit anomali Inferred relationship Some 2
    Structural anomaly of the cochlea and vestibular labyrinth Associated morphology False kongenit anomali Inferred relationship Some 1
    Incomplete formation of bony cochlea Associated morphology False kongenit anomali Inferred relationship Some 1
    Mondini defect Associated morphology False kongenit anomali Inferred relationship Some 1
    Dilatation of the vestibular aqueduct Associated morphology False kongenit anomali Inferred relationship Some 1
    Dilatation of semicircular canal Associated morphology False kongenit anomali Inferred relationship Some 1
    Calcific aortic stenosis - bicuspid valve Associated morphology False kongenit anomali Inferred relationship Some 2
    Vascular neurocutaneous syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    Vascular neurocutaneous syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Parkes Weber syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    Diffuse arteriovenous fistula Associated morphology False kongenit anomali Inferred relationship Some 2
    Arthrogryposis (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Sjögren-Larsson syndrome (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    8q partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    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 3
    Disorder resulting from duplication of all or part of the short arm of chromosome 20 with characteristics of normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. The chromosomal anomaly may occur de novo, but most reported cases arise from a reciprocal translocation or, as described in a few cases, a parental inversion. Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomaly of chromosome X Associated morphology False kongenit anomali Inferred relationship Some 1
    Total anomalous pulmonary venous return Associated morphology False kongenit anomali Inferred relationship Some 3
    Hydromyelia Associated morphology False kongenit anomali Inferred relationship Some 2
    Morning glory disc Associated morphology False kongenit anomali Inferred relationship Some 1
    Bicuspid doming of aortic cusp Associated morphology False kongenit anomali Inferred relationship Some 3
    Neural tube defect Associated morphology False kongenit anomali Inferred relationship Some 1
    Neural tube defect Associated morphology False kongenit anomali Inferred relationship Some 2
    Hemimyelocele Associated morphology False kongenit anomali Inferred relationship Some 3
    Hemimyelocele Associated morphology False kongenit anomali Inferred relationship Some 2
    A type of spina bifida aperta that is usually caused by a vertebral defect associated with a superficial fatty mass (lipoma or fatty tumour) that merges with the lower level of the spinal cord. Associated morphology False kongenit anomali Inferred relationship Some 2
    A type of spina bifida aperta that is usually caused by a vertebral defect associated with a superficial fatty mass (lipoma or fatty tumour) that merges with the lower level of the spinal cord. Associated morphology False kongenit anomali Inferred relationship Some 3
    Myelodysplasia of spinal cord Associated morphology False kongenit anomali Inferred relationship Some 1
    Myelodysplasia of spinal cord Associated morphology False kongenit anomali Inferred relationship Some 2
    Spinal hamartoma Associated morphology False kongenit anomali Inferred relationship Some 2
    Spinal hamartoma Associated morphology False kongenit anomali Inferred relationship Some 1
    Neurenterisk cyste og associeret malformation Associated morphology False kongenit anomali Inferred relationship Some 1
    Neurenterisk cyste og associeret malformation Associated morphology False kongenit anomali Inferred relationship Some 2
    Neurenterisk cyste Associated morphology False kongenit anomali Inferred relationship Some 2
    Neurenterisk cyste Associated morphology False kongenit anomali Inferred relationship Some 1
    Abnormality of neurogenesis Associated morphology False kongenit anomali Inferred relationship Some 1
    Defect of telencephalic division Associated morphology False kongenit anomali Inferred relationship Some 1
    Absence of septum pellucidum Associated morphology False kongenit anomali Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    REFERS TO concept association reference set

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