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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
    280471000077112 anomalie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    anomalie congénitale Is a Morphologically abnormal structure false Inferred relationship Some
    anomalie congénitale Is a anomalie du développement false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care Associated morphology False anomalie congénitale Inferred relationship Some 4
    4q partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of chromosome pair 12 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Functional asplenia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of integument Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital absence of skeletal muscle Associated morphology False anomalie congénitale Inferred relationship Some 2
    Turner syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    XXXXY syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of spinal meninges Associated morphology False anomalie congénitale Inferred relationship Some 1
    Thyroglossal duct cyst Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of neck Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spina bifida without hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 4
    Spina bifida without hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital absence of coronary sinus Associated morphology False anomalie congénitale Inferred relationship Some 2
    12q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Complete trisomy 21 syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    11p partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 3
    Disseminated superficial actinic porokeratosis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of endocrine gland Associated morphology False anomalie congénitale Inferred relationship Some 1
    18p partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    18q partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital atresia of osseous meatus of middle ear Associated morphology False anomalie congénitale Inferred relationship Some 2
    Penta X syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    11q partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of inner ear Associated morphology False anomalie congénitale Inferred relationship Some 1
    9q partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    chimère postirradiation Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of organ of Corti Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of chromosome pair 6 Associated morphology False anomalie congénitale Inferred relationship Some 1
    16q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Atelomyelia Associated morphology False anomalie congénitale 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 anomalie congénitale Inferred relationship Some 2
    Anomaly of chromosome pair 8 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hypomyelinogenesis congenita Associated morphology False anomalie congénitale Inferred relationship Some 1
    11q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    10p partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    17q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    4p partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    diastématomyélie Associated morphology False anomalie congénitale Inferred relationship Some 2
    Anomaly of chromosome pair 9 Associated morphology False anomalie congénitale 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 anomalie congénitale Inferred relationship Some 1
    22q partial trisomy (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital atresia of aortic valve (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Complete trisomy 18 syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    17p partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Akabane virus disease Associated morphology False anomalie congénitale Inferred relationship Some 2
    Fetal disproportion due to fetal myelomeningocele Associated morphology False anomalie congénitale Inferred relationship Some 3
    A rare congenital, distal arthrogryposis syndrome characterised by microstomia, whistling-face appearance, chin with V- or H- shaped crease, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis. Associated morphology False anomalie congénitale Inferred relationship Some 3
    Complete trisomy 20 syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of chromosome pair 16 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Encephalocystocele Associated morphology False anomalie congénitale Inferred relationship Some 2
    13p partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    2p partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    18p partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cervical thyroid remnant Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of chromosome pair 5 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Seckel syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Seckel syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spinal cord dysplasia Associated morphology False anomalie congénitale Inferred relationship Some 2
    Spina bifida aperta Associated morphology False anomalie congénitale Inferred relationship Some 2
    Spina bifida aperta Associated morphology False anomalie congénitale Inferred relationship Some 3
    Anomaly of chromosome pair 18 Associated morphology False anomalie congénitale Inferred relationship Some 1
    angiodysplasie ostéodystrophique Associated morphology False anomalie congénitale Inferred relationship Some 1
    2q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Branchial cleft cyst Associated morphology False anomalie congénitale Inferred relationship Some 2
    10p partial monosomy syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital anomaly of adrenal gland Associated morphology False anomalie congénitale 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 anomalie congénitale Inferred relationship Some 1
    Congenital hypoplasia of aortic arch Associated morphology False anomalie congénitale Inferred relationship Some 3
    Anomaly of chromosome pair 11 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Heterologous chimera Associated morphology False anomalie congénitale Inferred relationship Some 1
    Fragile X syndrome Associated morphology False anomalie congénitale 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 anomalie congénitale 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 anomalie congénitale Inferred relationship Some 4
    Homologous chimera Associated morphology False anomalie congénitale Inferred relationship Some 1
    Familial arthrogryposis-cholestatic hepatorenal syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    9p partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 3
    15q partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Williams syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Alstrom syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Triploidy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomalous pulmonary venous drainage to superior vena cava Associated morphology False anomalie congénitale Inferred relationship Some 4
    18q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Sirenoform monster Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spina bifida Associated morphology False anomalie congénitale Inferred relationship Some 3
    Spina bifida Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of membranous labyrinth Associated morphology False anomalie congénitale Inferred relationship Some 1
    Partial anomalous pulmonary venous connection Associated morphology False anomalie congénitale Inferred relationship Some 4
    Complete trisomy 8 syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Limb reduction-ichthyosis syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Rothmund-Thomson syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Anomaly of chromosome pair 21 Associated morphology False anomalie congénitale Inferred relationship Some 1
    5p partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    15q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of chromosome pair 22 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Occult spinal dysraphism sequence Associated morphology False anomalie congénitale Inferred relationship Some 3
    Meningomyelocele Associated morphology False anomalie congénitale Inferred relationship Some 3
    Complete trisomy 22 syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Bicuspid aortic valve Associated morphology False anomalie congénitale Inferred relationship Some 3
    Polyploidy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    10q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

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    US English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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