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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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    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 (disorder) 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
    Hydrorhachis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Unspecified spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Primary correction of congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Hypogonadism with anosmia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital malrotation of claw Associated morphology False Congenital anomaly Inferred relationship Some 2
    Sex chromosome abnormality - female phenotype Associated morphology False Congenital anomaly Inferred relationship Some
    homme de la Porcupine Associated morphology False Congenital anomaly Inferred relationship Some 1
    Rudimentary nipple Associated morphology False Congenital anomaly Inferred relationship Some 1
    Follicular ichthyosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lung anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Xeroderma pigmentosum, group D Associated morphology False Congenital anomaly Inferred relationship Some 1
    Left sided atrium connecting to ventricle of indeterminate morphology Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital megacolon Associated morphology False Congenital anomaly Inferred relationship Some 1
    Xeroderma pigmentosum, group F Associated morphology False Congenital anomaly Inferred relationship Some 1
    Gelman operation Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of thoracic cage Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of humerus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Frog fetus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of cricoid cartilage Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ear osseous meatus stricture Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of thyroid cartilage Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ectopic digestive organs NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Double orifice of tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dumbbell-shaped cartilaginous centrum of lumbar vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Reifenstein syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of arch of lumbar vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of femur Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pelvis plana Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pectus carinatum Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of pulmonary valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bone and joint malformation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other congenital retinal changes NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Genu recurvatum and long leg bone bowing Associated morphology False Congenital anomaly Inferred relationship Some 1
    Omental cyst Associated morphology False Congenital anomaly Inferred relationship Some 2
    Two chambered right ventricle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Exaggerated cusp of tooth Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other congenital anomalies of hand Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of hindpaw phalanx Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of congenital cardiovascular deformity (procedure) Direct morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal recessive centronuclear myopathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other intestine anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    12p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Giant left atrium Associated morphology False Congenital anomaly Inferred relationship Some 1
    Deletion of long arm of chromosome 18 Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of spinal meninges Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital CVS anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Balanced sex/autosomal rearrangement in abnormal individual Associated morphology False Congenital anomaly Inferred relationship Some
    Spina bifida of dorsal region (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bow legs NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Endocardial fibroelastosis of left atrium (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomaly of larynx, trachea and bronchus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duplication of the whole foot (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neural tube defect Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hereditary clubbing Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormality of right atrial appendage Associated morphology False Congenital anomaly Inferred relationship Some 1
    Oesophageal atresia, stenosis and fistula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Posteriorly rotated ear (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Infraorbital facial cleft - Tessier cleft 5 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital transverse mandibular hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital absence of nasal septum Associated morphology False Congenital anomaly Inferred relationship Some 2
    Atrioventricular septal defect with ventricular component under free floating superior bridging leaflet and chords to papillary muscle at right ventricular free wall (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other congenital anomalies of lower leg Associated morphology False Congenital anomaly Inferred relationship Some 1
    Balanced rearrangement or structural marker NEC NOS Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of oral mucosa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mirror imaged atria Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cutaneous syndrome with ichthyosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital epulis of newborn Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital conjunctival cyst Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital spondylolisthesis of cervical vertebra (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Soft tissue release for clubfoot Direct morphology False Congenital anomaly Inferred relationship Some 2
    Other anomalies of aorta NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Splayleg in piglets Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other congenital anomalies of forearm Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cortical dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of uterus NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Camptodactyly-other or multiple Associated morphology False Congenital anomaly Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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