FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.7  |  FHIR Version n/a  User: [n/a]

107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym Active Entire term case insensitive SNOMED CT core module
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure false Inferred relationship Existential restriction modifier
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Existential restriction modifier
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    4q partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomaly of chromosome pair 12 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Functional asplenia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of integument Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital absence of skeletal muscle Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Turner syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    XXXXY syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of spinal meninges Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Thyroglossal duct cyst Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital anomaly of neck Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Spina bifida without hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Spina bifida without hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Congenital absence of coronary sinus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    12q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Complete trisomy 21 syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    11p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Disseminated superficial actinic porokeratosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital anomaly of endocrine gland Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    18p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    18q partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital atresia of osseous meatus of middle ear Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Penta X syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    11q partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital anomaly of inner ear Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    9q partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Radiation chimera Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of organ of Corti Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomaly of chromosome pair 6 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    16q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Atelomyelia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Ring chromosome 1 syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Anomaly of chromosome pair 8 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Hypomyelinogenesis congenita Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    11q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    10p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    17q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    4p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Diastematomyelia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Anomaly of chromosome pair 9 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Double Y syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    22q partial trisomy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital atresia of aortic valve Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Complete trisomy 18 syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    17p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Akabane virus disease Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Fetal myelomeningocele causing disproportion Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Freeman-Sheldon syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Complete trisomy 20 syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomaly of chromosome pair 16 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Encephalocystocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    13p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    2p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    18p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Cervical thyroid remnant Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomaly of chromosome pair 5 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Seckel syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Seckel syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Spinal cord dysplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Spina bifida aperta Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Spina bifida aperta Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Anomaly of chromosome pair 18 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Klippel-Trenaunay-Weber syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    2q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Branchial cleft cyst Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    10p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Congenital anomaly of adrenal gland Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Ring chromosome 9 syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital hypoplasia of aortic arch Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Anomaly of chromosome pair 11 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Heterologous chimera Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Fragile X syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Rachischisis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Rachischisis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Homologous chimera Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Familial arthrogryposis-cholestatic hepatorenal syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    9p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    15q partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Williams syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Alstrom syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Triploidy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomalous pulmonary venous drainage to superior vena cava Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    18q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Sirenoform monster Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Spina bifida Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Spina bifida Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital anomaly of membranous labyrinth Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Partial anomalous pulmonary venous connection Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Complete trisomy 8 syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Limb reduction-ichthyosis syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Rothmund-Thomson syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Anomaly of chromosome pair 21 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    5p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    15q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomaly of chromosome pair 22 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Occult spinal dysraphism sequence Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Meningomyelocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Complete trisomy 22 syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Bicuspid aortic valve Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Polyploidy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    10q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1

    Start Previous Page 61 of 132 Next End

    This concept is not in any reference sets

    Back to Start