FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.5  |  FHIR Version n/a  User: [n/a]

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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Fronto-parietal craniofaciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Craniometaphyseal dysplasia - severe type Associated morphology False Congenital anomaly Inferred relationship Some 2
    Overgrowth of upper limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tetralogy of Fallot with pulmonary atresia Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified congenital malformations of circulatory system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Radioulnar dysostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified anomalies of adrenal gland Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of adrenal gland NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified sex chromosome anomaly Associated morphology False Congenital anomaly Inferred relationship Some
    Coronary artery anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hepatic methionine adenosyltransferase deficiency Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dubin-Johnson syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of heart valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of parietal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    utérus bicorne compliquant les soins postpartum, mère ayant accouché lors d'un épisode de soins précédent Associated morphology False Congenital anomaly Inferred relationship Some 1
    Left atrial hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cutis laxa, autosomal recessive Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of upper limb congenital ring constriction band Direct morphology False Congenital anomaly Inferred relationship Some 1
    Ichthyosis vulgaris Associated morphology False Congenital anomaly Inferred relationship Some 1
    False tendon - heart Associated morphology False Congenital anomaly Inferred relationship Some 1
    Alacrima Associated morphology False Congenital anomaly Inferred relationship Some 1
    Reniform pelvis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pulmonary artery anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of talus Associated morphology False Congenital anomaly Inferred relationship Some 1
    7p partial trisomy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    Transverse arrest metacarpal first ray Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital urethral syringocele Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomalies of thoracic vertebrae NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital chromosomal disease Associated morphology False Congenital anomaly Inferred relationship Some
    Anomalous implantation of ureter Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of ureter Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified anomalies of spleen Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of toe Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of premaxilla Associated morphology False Congenital anomaly Inferred relationship Some 1
    13p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Situs inversus viscerum Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital nephrotic syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hypoplasia of claw Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital uterine anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Left sided atrium connecting to right ventricle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital prolapse of bladder mucosa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Atrioventricular septal defect: atrial and ventricular components Associated morphology False Congenital anomaly Inferred relationship Some 1
    Repair of congenital pseudoarthrosis of tibia Direct morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of the urinary tract proper (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of skeletal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of brain Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital female urogenital anomaly (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hyperplasia of islet alpha cells with gastrin excess Associated morphology False Congenital anomaly Inferred relationship Some 2
    Amelogenesis imperfecta, hypocalcification type Associated morphology False Congenital anomaly Inferred relationship Some 2
    Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism Associated morphology False Congenital anomaly Inferred relationship Some 3
    Amelogenesis imperfecta, hypoplastic type with microdontia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Amelogenesis imperfecta, pigmented hypomaturation type Associated morphology False Congenital anomaly Inferred relationship Some 2
    Amelogenesis imperfecta, hypomaturation type (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Amelogenesis imperfecta, hypoplastic type Associated morphology False Congenital anomaly Inferred relationship Some 2
    Enamel-renal syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Excision of anlage of tibia Direct morphology False Congenital anomaly Inferred relationship Some 2
    Unspecified anomaly of bladder Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anterior lentiglobus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Talipes calcaneus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Absence of vein NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Papuloverrucous palmoplantar keratoderma of Jakac-Wolf Associated morphology False Congenital anomaly Inferred relationship Some 1
    Common arterial trunk and separate origin of pulmonary arteries (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypoplasia of pulmonary valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Whole chromosome monosomy, mosaicism NOS Associated morphology False Congenital anomaly Inferred relationship Some
    Total great vessel transposition Associated morphology False Congenital anomaly Inferred relationship Some 1
    Complete trisomy 8 syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Infantile uterus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida aperta of thoracic spine (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Microhepatia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other deletions of part of a chromosome Associated morphology False Congenital anomaly Inferred relationship Some
    Absent blood vessel in umbilical cord Associated morphology False Congenital anomaly Inferred relationship Some 1
    Truncal valve stenosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of skull Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of penis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete formation of bony cochlea Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified anomalies of urachus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bronchopulmonary isomerism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital macular changes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Constriction ring of upper limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Arteriohepatic dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Multiple congenital articular rigidities Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of cervix Associated morphology False Congenital anomaly Inferred relationship Some 1
    Absent eyebrow Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital folds or cysts of the posterior segment NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormal fusion of basisphenoid bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Acrosyndactyly of the fingers Associated morphology False Congenital anomaly Inferred relationship Some 1
    Segmental neurofibromatosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital musculoskeletal anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of pelvic bones Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of bronchus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hereditary neurocutaneous angiomata (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of interparietal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Doubling of uterus with doubling of cervix and vagina Associated morphology False Congenital anomaly Inferred relationship Some 1
    Short rib-polydactyly syndrome, non-Majewski type Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of arch of lumbar vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypoplasia of aorta Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified anomalies of spinal cord Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of ossicles of ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Congenital malformation of breast, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of nose and nasopharynx Associated morphology False Congenital anomaly Inferred relationship Some 1
    Right ventricle outflow chamber Associated morphology False Congenital anomaly Inferred relationship Some 1

    Start Previous Page 114 of 124 Next End

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    Back to Start