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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
    Kendt ELLER mistanke om føtal spina bifida med myelomeningocele med indvirkning på obstetrisk behandling Associated morphology False kongenit anomali Inferred relationship Some 4
    4q partial monosomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomaly of chromosome pair 12 Associated morphology False kongenit anomali Inferred relationship Some 1
    Functional asplenia Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of integument Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital absence of skeletal muscle Associated morphology False kongenit anomali Inferred relationship Some 2
    Turner syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    XXXXY syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of spinal meninges Associated morphology False kongenit anomali Inferred relationship Some 1
    Thyroglossal duct cyst (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of neck Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida without hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 4
    Spina bifida without hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital absence of coronary sinus Associated morphology False kongenit anomali Inferred relationship Some 2
    12q partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Complete trisomy 21 syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    11p partial monosomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 3
    Disseminated superficial actinic porokeratosis Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of endocrine gland Associated morphology False kongenit anomali Inferred relationship Some 1
    18p partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    18q partial monosomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital atresia of osseous meatus of middle ear Associated morphology False kongenit anomali Inferred relationship Some 2
    Penta X syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    11q partial monosomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of inner ear Associated morphology False kongenit anomali Inferred relationship Some 1
    9q partial monosomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Strålingskimære Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of organ of Corti Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomaly of chromosome pair 6 Associated morphology False kongenit anomali Inferred relationship Some 1
    partiel trisomi 16q-syndrom Associated morphology False kongenit anomali Inferred relationship Some 1
    Atelomyelia Associated morphology False kongenit anomali Inferred relationship Some 2
    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 2
    Anomaly of chromosome pair 8 Associated morphology False kongenit anomali Inferred relationship Some 1
    Hypomyelinogenesis congenita Associated morphology False kongenit anomali Inferred relationship Some 1
    11q partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    10p partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    17q partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    4p partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Diastematomyeli Associated morphology False kongenit anomali Inferred relationship Some 2
    Anomaly of chromosome pair 9 (disorder) 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 1
    22q partial trisomy (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital atresia of aortic valve Associated morphology False kongenit anomali Inferred relationship Some 2
    Complete trisomy 18 syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    17p partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Akabane virus disease Associated morphology False kongenit anomali Inferred relationship Some 2
    Fetal disproportion due to fetal myelomeningocele Associated morphology False kongenit anomali Inferred relationship Some 3
    A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis. Associated morphology False kongenit anomali Inferred relationship Some 3
    Complete trisomy 20 syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomaly of chromosome pair 16 (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Encephalocystocele Associated morphology False kongenit anomali Inferred relationship Some 2
    13p partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    2p partial trisomy syndrome (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    18p partial monosomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Cervical thyroid remnant Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomaly of chromosome pair 5 Associated morphology False kongenit anomali Inferred relationship Some 1
    Seckel syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    Seckel syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Spinal cord dysplasia Associated morphology False kongenit anomali Inferred relationship Some 2
    Spina bifida aperta Associated morphology False kongenit anomali Inferred relationship Some 2
    Spina bifida aperta Associated morphology False kongenit anomali Inferred relationship Some 3
    Anomaly of chromosome pair 18 Associated morphology False kongenit anomali Inferred relationship Some 1
    Klippel-Trénaunay-Webers syndrom Associated morphology False kongenit anomali Inferred relationship Some 1
    2q partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Branchial cleft cyst Associated morphology False kongenit anomali Inferred relationship Some 2
    10p partial monosomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital anomaly of adrenal gland Associated morphology False kongenit anomali Inferred relationship Some 1
    An autosomal anomaly with characteristics of variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies and variable genital, limb and skeletal anomalies. Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital hypoplasia of aortic arch Associated morphology False kongenit anomali Inferred relationship Some 3
    Anomaly of chromosome pair 11 Associated morphology False kongenit anomali Inferred relationship Some 1
    Heterologous chimera Associated morphology False kongenit anomali Inferred relationship Some 1
    Fragile X syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Associated morphology False kongenit anomali Inferred relationship Some 3
    Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Associated morphology False kongenit anomali Inferred relationship Some 4
    Homologous chimera Associated morphology False kongenit anomali Inferred relationship Some 1
    Familial arthrogryposis-cholestatic hepatorenal syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    partiel monosomi 9p-syndrom Associated morphology False kongenit anomali Inferred relationship Some 3
    partiel monosomi 15q-syndrom Associated morphology False kongenit anomali Inferred relationship Some 1
    Williams syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Alstrom syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Triploidy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomalous pulmonary venous drainage to superior vena cava Associated morphology False kongenit anomali Inferred relationship Some 4
    18q partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Sirenomeli-misfoster Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida Associated morphology False kongenit anomali Inferred relationship Some 3
    Spina bifida Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of membranous labyrinth Associated morphology False kongenit anomali Inferred relationship Some 1
    Partial anomalous pulmonary venous connection Associated morphology False kongenit anomali Inferred relationship Some 4
    Complete trisomy 8 syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Limb reduction-ichthyosis syndrome (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Rothmund-Thomson syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    Anomaly of chromosome pair 21 Associated morphology False kongenit anomali Inferred relationship Some 1
    5p partial monosomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    partiel trisomi 15q-syndrom Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomaly of chromosome pair 22 Associated morphology False kongenit anomali Inferred relationship Some 1
    Occult spinal dysraphism sequence Associated morphology False kongenit anomali Inferred relationship Some 3
    Meningomyelocele Associated morphology False kongenit anomali Inferred relationship Some 3
    Complete trisomy 22 syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Bicuspid aortic valve Associated morphology False kongenit anomali Inferred relationship Some 3
    Polyploidy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    10q partial trisomy syndrome 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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