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, 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
    Dental midlines coincident and incorrect Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dentin dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lack of ossification of forepaw phalanx Associated morphology False Congenital anomaly Inferred relationship Some 1
    Defect of vertebral segmentation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ichthyosiform erythroderma Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Focal nodular hypoplasia of liver Associated morphology False Congenital anomaly Inferred relationship Some 1
    Circumscribed palmoplantar keratoderma Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital bronchiectasis Associated morphology False Congenital anomaly Inferred relationship Some 2
    [X]Other congenital malformations of cardiac septa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sotos' syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of iris Associated morphology False Congenital anomaly Inferred relationship Some 1
    Right hypoplastic heart syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormal left ventricular muscle band Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of skull shape Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chromosomal alterations of group D Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital postural curvature of spine Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomalies of lip Associated morphology False Congenital anomaly Inferred relationship Some 1
    Left ventricular outflow tract atresia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified ureter anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Atresia of vein NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anorectal anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fetal postural deformity Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified congenital anomaly of lacrimal passages Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital alveolar hypoplasia of mandible Associated morphology False Congenital anomaly Inferred relationship Some 2
    [X]Other congenital malformations of great arteries Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ichthyosis hystrix gravior of Rheydt Associated morphology False Congenital anomaly Inferred relationship Some 1
    Late secondary abnormalities of the central nervous system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mesenteric cyst Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cat eye syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Papyraceous fetus NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chromosomal alterations of group C and X Associated morphology False Congenital anomaly Inferred relationship Some
    [X]Other specified congenital malformations of the heart Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital extension contracture of the knee Associated morphology False Congenital anomaly Inferred relationship Some 1
    Multiple supernumerary eye muscles Associated morphology False Congenital anomaly Inferred relationship Some 1
    Horizontal orbital dystopia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Muscle eye brain disease Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital complete heart block Associated morphology False Congenital anomaly Inferred relationship Some 1
    Left ventricular outflow tract obstruction Associated morphology False Congenital anomaly Inferred relationship Some 1
    Encephalo-ophthalmic dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hemimyelocele Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of external female genitalia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Absent tricuspid leaflet Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified ureter anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified muscle, tendon and fascia anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hystrix ichthyosis with deafness Associated morphology False Congenital anomaly Inferred relationship Some 1
    Straddling tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of arch of cervical vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cordate pelvis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital insufficiency of heart valve NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    X-linked recessive ichthyosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of hindpaw phalanx Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of nasal sinuses Associated morphology False Congenital anomaly Inferred relationship Some 1
    Localised bullous ichthyosiform erythroderma Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of thumb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified anomaly of abdominal wall Associated morphology False Congenital anomaly Inferred relationship Some 1
    Nemaline myopathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ebstein-like malformation of mitral valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of aorta Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bilateral craniofacial microsomia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ectopic thyroid tissue Associated morphology False Congenital anomaly Inferred relationship Some 1
    Absence or hypoplasia of the umbilical artery NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Repair of cleft hand Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital eye anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal recessive ichthyosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital articular rigidity with myopathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    11q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Other specified dwarfing syndromes Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of lacrimal apparatus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neuroenteric cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ductus arteriosus from retro-oesophageal aortic diverticulum Associated morphology False Congenital anomaly Inferred relationship Some 2
    Branchial cleft sinus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Supraorbital facial cleft - Tessier cleft 13 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Maleformatio ectodermalis generalisata of Bafverstedt Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair Associated morphology False Congenital anomaly Inferred relationship Some
    Morning glory disc Associated morphology False Congenital anomaly Inferred relationship Some 1
    Infraorbital facial cleft - Tessier cleft 4 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of the haematopoietic system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other great vein anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Transposition of arterial trunk NEC Associated morphology False Congenital anomaly Inferred relationship Some 2
    Persistent vertical vein Associated morphology False Congenital anomaly Inferred relationship Some 1
    Orbital dystopia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Umbilical vein varix Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of the thyroid gland Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital deafness Associated morphology False Congenital anomaly Inferred relationship Some 1
    Uterine atresia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital floating liver Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital malposition of nasal turbinate Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital fusion of pulmonic cusps Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 14 Associated morphology False Congenital anomaly Inferred relationship Some
    Papyraceous fetus unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other congenital anomaly forearm NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Colloid cyst of third ventricle Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormality of Eustachian tube Associated morphology False Congenital anomaly Inferred relationship Some 1
    Myelodysplasia of spinal cord Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of esophagus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of atrioventricular valves in atrioventricular septal defect Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal dominant ichthyosis vulgaris Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Unspecified spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 2

    Start Previous Page 86 of 124 Next End

    Reference Sets

    Australian dialect reference set

    Concept inactivation indicator reference set

    Description inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set

    Back to Start