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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure false Inferred relationship Some
    Congenital anomaly Is a Developmental abnormality false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Hereditary myopathy limited to females Associated morphology False Congenital anomaly Inferred relationship Some 2
    Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein Associated morphology False Congenital anomaly Inferred relationship Some 2
    Severe autosomal recessive muscular dystrophy of childhood - North African type Associated morphology False Congenital anomaly Inferred relationship Some 2
    Autosomal recessive muscular dystrophy with gene located at 15q Associated morphology False Congenital anomaly Inferred relationship Some 2
    Reunion-Indiana Amish type muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Western type of congenital muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital muscular dystrophy with arthrogryposis multiplex congenita Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ullrich congenital muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Eichsfeld type congenital muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hutterite type of muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Adult onset autosomal recessive muscular dystrophy with normal dystrophin Associated morphology False Congenital anomaly Inferred relationship Some 2
    Autosomal dominant muscular dystrophy with limb girdle distribution Associated morphology False Congenital anomaly Inferred relationship Some 2
    Autosomal dominant muscular dystrophy with gene located at 5q31 Associated morphology False Congenital anomaly Inferred relationship Some 2
    Late onset proximal muscular dystrophy with dysarthria Associated morphology False Congenital anomaly Inferred relationship Some 2
    X-linked muscular dystrophy not predominantly limb girdle Associated morphology False Congenital anomaly Inferred relationship Some 2
    Benign scapuloperoneal muscular dystrophy with cardiomyopathy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Autosomal recessive muscular dystrophy not predominantly limb girdle Associated morphology False Congenital anomaly Inferred relationship Some 2
    Scapulohumeral muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Autosomal dominant muscular dystrophy not predominantly limb girdle Associated morphology False Congenital anomaly Inferred relationship Some 2
    Benign scapuloperoneal muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Benign congenital muscular dystrophy with finger flexion contractures Associated morphology False Congenital anomaly Inferred relationship Some 2
    Distal muscular dystrophy with adult onset Associated morphology False Congenital anomaly Inferred relationship Some 2
    Benign congenital hypotonia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal recessive centronuclear myopathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Myopathy with abnormality of histochemical fibre type Associated morphology False Congenital anomaly Inferred relationship Some 1
    Myopathy with type I hypotrophy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital myopathy with fibre type disproportion Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital myopathy with uniform fibre type Associated morphology False Congenital anomaly Inferred relationship Some 1
    Myopathy with cytoplasmic inclusions Associated morphology False Congenital anomaly Inferred relationship Some 1
    Myopathy with tubular aggregates Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hereditary myositis ossificans Associated morphology False Congenital anomaly Inferred relationship Some 2
    Arthrogryposis Associated morphology False Congenital anomaly Inferred relationship Some
    Sjögren-Larsson syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Multiple lentigines syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Malignant atrophic papulosis Associated morphology False Congenital anomaly Inferred relationship Some
    Longitudinal deficiency of tibia AND/OR fibula Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital rectovaginal fistula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital rectovaginal fistula Associated morphology False Congenital anomaly Inferred relationship Some 4
    Male pseudohermaphroditism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of genital system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Embryonic cyst of epoophoron Associated morphology False Congenital anomaly Inferred relationship Some 4
    Paraumbilical hernia with gangrene Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cutis laxa, autosomal dominant Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dominant dystrophic epidermolysis bullosa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hereditary muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Fukuyama congenital muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Merosin deficient congenital muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Walker-Warburg congenital muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Muscle-eye-brain disease, congenital muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Distal muscular dystrophy, Miyoshi type Associated morphology False Congenital anomaly Inferred relationship Some 2
    Becker muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some
    Emery-Dreifuss muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Dickson-Diveley operation Direct morphology False Congenital anomaly Inferred relationship Some 5
    Congenital anomaly of anus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tendon transfer and arthrodesis to correct claw toe Direct morphology False Congenital anomaly Inferred relationship Some 3
    Reduction of congenital hip dislocation by abduction Direct morphology False Congenital anomaly Inferred relationship Some 1
    Reduction of developmental hip dysplasia by splint Direct morphology False Congenital anomaly Inferred relationship Some 2
    Reduction of developmental hip dysplasia by traction Direct morphology False Congenital anomaly Inferred relationship Some 2
    Hemimyelocele Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lipomeningocele Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lobar holoprosencephaly Associated morphology False Congenital anomaly Inferred relationship Some 4
    Hemimegalencephaly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Synophrys Associated morphology False Congenital anomaly Inferred relationship Some
    Absent eyebrow Associated morphology False Congenital anomaly Inferred relationship Some
    Double eyebrow Associated morphology False Congenital anomaly Inferred relationship Some
    Coronary orifice asymmetrical Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dual coronary orifice Associated morphology False Congenital anomaly Inferred relationship Some 1
    Coronary orifice atresia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormal coronary artery course Associated morphology False Congenital anomaly Inferred relationship Some 1
    Intramural coronary artery course Associated morphology False Congenital anomaly Inferred relationship Some 1
    Aberrant course of left anterior descending coronary artery from right coronary artery crossing right ventricular outflow tract Associated morphology False Congenital anomaly Inferred relationship Some 1
    Coronary artery runs between aorta and pulmonary trunk Associated morphology False Congenital anomaly Inferred relationship Some 1
    Circumflex runs posterior to pulmonary trunk Associated morphology False Congenital anomaly Inferred relationship Some 1
    Circumflex runs posterior to aorta Associated morphology False Congenital anomaly Inferred relationship Some 1
    Single coronary artery fistula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Multiple coronary artery fistulae Associated morphology False Congenital anomaly Inferred relationship Some 4
    Coronary fistulae from right ventricle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Coronary fistulae from left ventricle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital coronary artery calcification Associated morphology False Congenital anomaly Inferred relationship Some 2
    Right ventricle-dependent coronary circulation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Variant dominance of coronary circulation Associated morphology False Congenital anomaly Inferred relationship Some 3
    Right dominant coronary system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Left dominant coronary system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Balanced coronary system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Partial agenesis of pericardium Associated morphology False Congenital anomaly Inferred relationship Some 2
    Totally absent pericardium Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pleuropericardial cyst Associated morphology False Congenital anomaly Inferred relationship Some 6
    Pericardial diverticulum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital tracheo-oesophageal cleft Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of salivary glands and ducts Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital stenosis of oesophagus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital absence, atresia and stenosis of small intestine Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital functional disorders of the small intestine Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital dysmotility of small intestine Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital stenosis of colon Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital stenosis of appendix Associated morphology False Congenital anomaly Inferred relationship Some 1
    High anorectal malformation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Low anorectal malformation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital fistula of rectum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital fistula of anus Associated morphology False Congenital anomaly Inferred relationship Some 1

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    Reference Sets

    Australian dialect reference set

    Concept inactivation indicator reference set

    Description inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set

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