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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
    Modified Johanson operation for claw toe with arthrodesis Direct morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of inner ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of digestive system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Primary endocardial fibroelastosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of female genital system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pseudocoarctation of aorta Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital cardiospasm Associated morphology False Congenital anomaly Inferred relationship Some 1
    2q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Stunted embryo Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of stomach Associated morphology False Congenital anomaly Inferred relationship Some 1
    10q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Acrocephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Keratosis follicularis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital stenosis of inferior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of pituitary gland Associated morphology False Congenital anomaly Inferred relationship Some 1
    XX males Associated morphology False Congenital anomaly Inferred relationship Some
    Female pseudohermaphroditism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of nervous system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Double Y syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    6q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Oculopharyngeal muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital skin fragility of animals Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital depression in skull Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hyperplasia of intrahepatic bile duct Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cutaneous lesion resulting from spina bifida Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acral Darier's disease Associated morphology False Congenital anomaly Inferred relationship Some 2
    Keratoderma with deafness Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of macula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Klinefelter's syndrome, XXY Associated morphology False Congenital anomaly Inferred relationship Some
    Pseudocryptorchism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ectopic gastric mucosa - multiple sites Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital labial adhesions Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lethal white syndrome of foals Associated morphology False Congenital anomaly Inferred relationship Some 1
    Axenfeld-Rieger syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cochleate uterus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida aperta of cervical spine Associated morphology False Congenital anomaly Inferred relationship Some 2
    Correction of congenital deformity of hip NOS Direct morphology False Congenital anomaly Inferred relationship Some 1
    Release of pantalar joints for correction congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Some 2
    Wedge tarsectomy for correction congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Some 2
    Robinson nail dystrophy-deafness syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of uterus complicating antenatal care, baby not yet delivered Associated morphology False Congenital anomaly Inferred relationship Some 1
    Imperforate pectinate glaucoma Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 1
    Megalocornea Associated morphology False Congenital anomaly Inferred relationship Some 1
    Specified optic disc anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Great vessel transposition NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Fusion of heart valve cusps NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomalies of aorta Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other peripheral vascular system anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital urethral valvular stricture Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital torticollis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Transverse deficiency of hand Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duplication of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Gastrointestinal tract congenital anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital gingival granular cell tumour Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital urinary meatus obstruction Associated morphology False Congenital anomaly Inferred relationship Some 2
    Venous remnant Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ring chromosome 21 syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital posterior urethral valves Associated morphology False Congenital anomaly Inferred relationship Some 1
    Corneal size or shape anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital thickening of ischium Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified congenital malformations of eye Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of uterus - baby delivered Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cervical, vaginal and external female genital anomalies, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 2
    Corneal size and shape anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of frontal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duplication of external genitalia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Disorder of neuronal migration and differentiation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomaly of lip NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Primary correction of congenital deformity of foot NOS Direct morphology False Congenital anomaly Inferred relationship Some 1
    Early secondary malformation of the central nervous system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Excision of limbus for congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some 2
    Shelf procedure for congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    [X]Congenital malformations and deformations of the musculoskeletal system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other congenital anomalies of wrist Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cleft face Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital myopathy with fibre type disproportion Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cutis laxa, recessive, type I Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormal shape of spleen Associated morphology False Congenital anomaly Inferred relationship Some 2
    Branchial vestige Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of nasal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dilatation of mitral annulus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Division of constricting band on limb Direct morphology False Congenital anomaly Inferred relationship Some 2
    Ichthyosis linearis circumflexa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of the pulmonary veins, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Craniofacial microsomia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida of lumbar region Associated morphology False Congenital anomaly Inferred relationship Some 2
    Repositioning of thumb for cleft hand Direct morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of penis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of cardiac connection Associated morphology False Congenital anomaly Inferred relationship Some 1
    Deep vein hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormality of neurogenesis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of small intestine Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of maxilla Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of metatarsal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unspecified congenital anomalies of nail Associated morphology False Congenital anomaly Inferred relationship Some 1
    Café-au-lait macules with pulmonary stenosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other lower limb and pelvic girdle anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dermatoglyphs - skin lines Associated morphology False Congenital anomaly Inferred relationship Some 1
    1p partial monosomy Associated morphology False Congenital anomaly Inferred relationship Some

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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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