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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
    280471000077112 anomalie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    anomalie congénitale Is a Morphologically abnormal structure false Inferred relationship Some
    anomalie congénitale Is a anomalie du développement false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Branchial cleft cyst Associated morphology False anomalie congénitale Inferred relationship Some 2
    Ectopic liver Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital nuclear ophthalmoplegia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of rectum Associated morphology False anomalie congénitale Inferred relationship Some 1
    Euryblepharon (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Trisomy 22 Associated morphology False anomalie congénitale Inferred relationship Some
    Unspecified nervous system anomaly NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    19q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital vesicoureterorenal reflux (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Multiple pterygium syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Von Hippel-Lindau syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital laryngeal adductor palsy (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital disorders of eye and eyelid movements Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of frontal bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Humeroradial synostosis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Uterus biforis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Unspecified anomaly of the great veins, NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital focal enlargement of rib Associated morphology False anomalie congénitale Inferred relationship Some 1
    Pancreatic duct anomaly Associated morphology False anomalie congénitale Inferred relationship Some 1
    16p partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Indeterminate ventricular outflow tract obstruction Associated morphology False anomalie congénitale Inferred relationship Some 1
    Single tooth microdontia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of lacrimal passages NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Interrupted aortic arch between left common carotid and brachiocephalic artery Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital humeral varus Associated morphology False anomalie congénitale Inferred relationship Some 1
    17q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital cardiovascular disorder in mother complicating pregnancy, childbirth AND/OR puerperium Associated morphology False anomalie congénitale Inferred relationship Some 1
    Homologous chimera Associated morphology False anomalie congénitale Inferred relationship Some
    Wolffian duct cyst - male Associated morphology False anomalie congénitale Inferred relationship Some 1
    Correction of congenital deformity of upper limb Direct morphology False anomalie congénitale Inferred relationship Some 1
    Unspecified nervous system anomaly of brain, cord and nervous system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of eye Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hereditary splenic hypoplasia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hypoplasia of cementum Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified obstructive defect of renal pelvis or ureter Associated morphology False anomalie congénitale Inferred relationship Some 1
    Absence of ear NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of the pelvis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomalies of eyelid, lacrimal system and orbit Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital lordosis/scoliosis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Unspecified anomalies of esophagus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of foot Associated morphology False anomalie congénitale Inferred relationship Some 1
    Trisomy 12 Associated morphology False anomalie congénitale Inferred relationship Some
    Bullous ichthyosiform erythroderma Associated morphology False anomalie congénitale Inferred relationship Some 1
    Bulbus cordis and cardiac septal closure anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other congenital anomalies of toe Associated morphology False anomalie congénitale Inferred relationship Some 1
    Bayonet hair Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital heterochromia iridis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Freemartin Associated morphology False anomalie congénitale Inferred relationship Some 2
    Constriction ring syndrome of lower limb with amputation Associated morphology False anomalie congénitale Inferred relationship Some 1
    Dumbbell ossification of centrum of cervical vertebra Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of male urogenital tract (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of exoccipital bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Craniometaphyseal dysplasia Associated morphology False anomalie congénitale Inferred relationship Some 2
    Potter's facies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Mottled teeth, congenital Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified nervous system anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Duplication of whole hand Associated morphology False anomalie congénitale Inferred relationship Some 1
    Liver and/or biliary duplication (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified congenital anomaly of peripheral vascular system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ductus arteriosus from subclavian artery Associated morphology False anomalie congénitale Inferred relationship Some 2
    Other specified eye anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital leg length discrepancy (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital cystic ear Associated morphology False anomalie congénitale Inferred relationship Some 1
    Genu recurvatum and long leg bone bowing NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital tarsal kink (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Trabecular dysgenesis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of humerus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of urethra Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital abnormal shape of carpal bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital laryngeal abductor palsy Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other eye anomalies NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Sarcotubular myopathy Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified esophageal atresia, stenosis or fistula Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hypoplasia of left ventricular outflow tract and trabecular area Associated morphology False anomalie congénitale Inferred relationship Some 1
    A neural tube defect with characteristics of improper closure of the spinal column during embryonal development. In the case of spina bifida occulta the site of the lesion is not exposed, there is a midline defect of the vertebral bodies without protrusion of the spinal cord or meninges. Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of hand (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hypoplasia of left ventricular outflow tract Associated morphology False anomalie congénitale Inferred relationship Some 1
    10p partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Henck-Assman disease Associated morphology False anomalie congénitale Inferred relationship Some 1
    Male pseudohermaphroditism Associated morphology False anomalie congénitale Inferred relationship Some 1
    Double uterus affecting pregnancy Associated morphology False anomalie congénitale Inferred relationship Some 1
    Non-bullous ichthyosiform erythroderma Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of tooth (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Duplication of radius Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital ichthyosis of skin Associated morphology False anomalie congénitale Inferred relationship Some 1
    Duplication of tibia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lower limb anomaly, unspecified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Duplication of tarsal bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of trachea Associated morphology False anomalie congénitale Inferred relationship Some 1
    Reduction of congenital hip dislocation by traction Direct morphology False anomalie congénitale Inferred relationship Some 2
    Tetralogy of Fallot, unspecified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Incomplete ossification of alisphenoid bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital malformation syndrome with other skeletal changes NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Renal agenesis and dysgenesis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Pulmonary artery anomaly, unspecified Associated morphology False anomalie congénitale Inferred relationship Some 1
    7q partial monosomy Associated morphology False anomalie congénitale Inferred relationship Some
    Bicornuate uterus in pregnancy, childbirth and the puerperium Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other congenital circulatory system anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Trilobular liver Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other tongue anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1

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    Reference Sets

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    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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