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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
    Congenital displacement of gastric mucosa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hyperganglionosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital parameatal cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypoplasia of upper limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duplication of fibula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pseudotrisomy 18 Associated morphology False Congenital anomaly Inferred relationship Some
    Triploidy and polyploidy Associated morphology False Congenital anomaly Inferred relationship Some
    Deletion of part of autosome Associated morphology False Congenital anomaly Inferred relationship Some
    Sex chromosome abnormality - male phenotype Associated morphology False Congenital anomaly Inferred relationship Some
    FRAXA Associated morphology False Congenital anomaly Inferred relationship Some
    Xeroderma pigmentosum, group C Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mullerian remnant Associated morphology False Congenital anomaly Inferred relationship Some 1
    11p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Stabilisation of hypoplastic thumb Direct morphology False Congenital anomaly Inferred relationship Some 2
    Other correction of congenital deformity of foot NOS Direct morphology False Congenital anomaly Inferred relationship Some 1
    Correction of minor congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Retinal haemangioblastomatosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital failure of eye elevation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dental arch length loss secondary to dental caries Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of genital system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Periventricular leucomalacia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of fibula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duane's syndrome, type 1 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Thoracic spina bifida with hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 3
    Anomalies of hypothalamus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other great vein anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of cerebral vessel, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital fissure of epiglottis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other lung agenesis, hypoplasia or dysplasia NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other tongue anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified oesophageal anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified oesophageal anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unspecified anomalies of stomach Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomalies of intestine Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other congenital anomaly of gallbladder Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hydatid cyst of Morgagni - male Associated morphology False Congenital anomaly Inferred relationship Some 1
    Scaphoid-lunate synostosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Proximal interphalangeal joint symphalangism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of spine, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Whole chromosome trisomy, meiotic nondisjunction Associated morphology False Congenital anomaly Inferred relationship Some
    Partial trisomy syndromes Associated morphology False Congenital anomaly Inferred relationship Some
    Hypoplasia of spleen Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of thymus gland NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of posterior segment of eye Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Congenital malformations of the urinary system Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of breast Associated morphology False Congenital anomaly Inferred relationship Some 1
    17p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Low assimilation pelvis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fetus papyraceous Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital absence of claw Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital absence of forepaw phalanx Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormal fusion of carpal bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormal fusion of presphenoid bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormal shape of basisphenoid bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormal shape of supraoccipital bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of basioccipital bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of pubis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital branched rib Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital blepharophimosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of palatine bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of parietal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of rib Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hypoplasia of forepaw phalanx Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital hypoplasia of presphenoid bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital malposition of claw Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital thickening of humerus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dumbbell ossification of centrum of caudal vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dumbbell ossification of centrum of lumbar vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of centrum of cervical vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of forepaw phalanx Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of presphenoid bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of rib Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of auditory ossicles Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of centrum of sacral vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tetrasomy 12p syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of joint Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of jaw Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital vesico-ureteric reflux Associated morphology False Congenital anomaly Inferred relationship Some 1
    Atresia of pupil Associated morphology False Congenital anomaly Inferred relationship Some 2
    Duplication seen only at prometaphase Associated morphology False Congenital anomaly Inferred relationship Some
    Pharyngeal pituitary tissue Associated morphology False Congenital anomaly Inferred relationship Some 2
    Benign congenital hypotonia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of centrum of caudal vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified stomach anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dominant congenital ichthyosiform erythroderma Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomalies of fetus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Peripheral vascular system anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duplex ureter structure Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 16 Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of trunk Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bifid patella Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of renal pelvis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sirenoform monster Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of membranous labyrinth Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 19 Associated morphology False Congenital anomaly Inferred relationship Some
    Uterus bicornuatus vetularum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pancreatic colipase deficiency Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hydromeningomyelocele Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital nonprogressive myopathy with Moebius and Robin sequences Associated morphology False Congenital anomaly Inferred relationship Some 1
    Modified Johanson operation for claw toe with arthrodesis Direct morphology False Congenital anomaly Inferred relationship Some 2

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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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