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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 (morphologic abnormality) false Inferred relationship Some
    anomalie congénitale Is a anomalie du développement false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital myopathy with fibre type disproportion Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cutis laxa, recessive, type I Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital abnormal shape of spleen Associated morphology False anomalie congénitale Inferred relationship Some 2
    Branchial vestige Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of nasal bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Dilatation of mitral annulus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Division of constricting band on limb Direct morphology False anomalie congénitale Inferred relationship Some 2
    Ichthyosis linearis circumflexa Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of the pulmonary veins, unspecified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Craniofacial microsomia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spina bifida of lumbar region Associated morphology False anomalie congénitale Inferred relationship Some 2
    Repositioning of thumb for cleft hand Direct morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of penis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital abnormality of cardiac connection Associated morphology False anomalie congénitale Inferred relationship Some 1
    Deep vein hypoplasia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Abnormality of neurogenesis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of small intestine Associated morphology False anomalie congénitale Inferred relationship Some 1
    Incomplete ossification of maxilla Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of metatarsal bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Unspecified congenital anomalies of nail Associated morphology False anomalie congénitale Inferred relationship Some 1
    Café-au-lait macules with pulmonary stenosis (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other lower limb and pelvic girdle anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Dermatoglyphs - skin lines Associated morphology False anomalie congénitale Inferred relationship Some 1
    1p partial monosomy Associated morphology False anomalie congénitale Inferred relationship Some
    Hydrorhachis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Unspecified spina bifida with hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Primary correction of congenital deformity of foot Direct morphology False anomalie congénitale Inferred relationship Some 1
    Hypogonadism with anosmia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital malrotation of claw Associated morphology False anomalie congénitale Inferred relationship Some 2
    Sex chromosome abnormality - female phenotype Associated morphology False anomalie congénitale Inferred relationship Some
    Porcupine man Associated morphology False anomalie congénitale Inferred relationship Some 1
    Rudimentary nipple Associated morphology False anomalie congénitale Inferred relationship Some 1
    Follicular ichthyosis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lung anomaly NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Xeroderma pigmentosum, group D Associated morphology False anomalie congénitale Inferred relationship Some 1
    Left sided atrium connecting to ventricle of indeterminate morphology Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital megacolon Associated morphology False anomalie congénitale Inferred relationship Some 1
    Xeroderma pigmentosum, group F Associated morphology False anomalie congénitale Inferred relationship Some 1
    Gelman operation Direct morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of thoracic cage Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of humerus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Frog fetus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of cricoid cartilage Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ear osseous meatus stricture Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of thyroid cartilage Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ectopic digestive organs NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Double orifice of tricuspid valve Associated morphology False anomalie congénitale Inferred relationship Some 1
    Dumbbell-shaped cartilaginous centrum of lumbar vertebra Associated morphology False anomalie congénitale Inferred relationship Some 1
    Reifenstein syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of arch of lumbar vertebra Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of femur Associated morphology False anomalie congénitale Inferred relationship Some 1
    Pelvis plana Associated morphology False anomalie congénitale Inferred relationship Some 1
    Pectus carinatum Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other congenital malformations of pulmonary valve Associated morphology False anomalie congénitale Inferred relationship Some 1
    Bone and joint malformation Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other congenital retinal changes NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Genu recurvatum and long leg bone bowing Associated morphology False anomalie congénitale Inferred relationship Some 1
    Omental cyst Associated morphology False anomalie congénitale Inferred relationship Some 2
    Two chambered right ventricle Associated morphology False anomalie congénitale Inferred relationship Some 1
    Exaggerated cusp of tooth Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other congenital anomalies of hand Associated morphology False anomalie congénitale Inferred relationship Some 1
    Incomplete ossification of hindpaw phalanx Associated morphology False anomalie congénitale Inferred relationship Some 1
    Correction of congenital cardiovascular deformity (procedure) Direct morphology False anomalie congénitale Inferred relationship Some 1
    Autosomal recessive centronuclear myopathy Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other intestine anomalies NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    12p partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital hydrocephalus NOS Associated morphology False anomalie congénitale Inferred relationship Some 2
    Giant left atrium Associated morphology False anomalie congénitale Inferred relationship Some 1
    Deletion of long arm of chromosome 18 Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital anomaly of spinal meninges Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital CVS anomaly NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Balanced sex/autosomal rearrangement in abnormal individual Associated morphology False anomalie congénitale Inferred relationship Some
    Spina bifida of dorsal region (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Bow legs NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Endocardial fibroelastosis of left atrium (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other anomaly of larynx, trachea and bronchus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Duplication of the whole foot Associated morphology False anomalie congénitale Inferred relationship Some 1
    Neural tube defect Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hereditary clubbing Associated morphology False anomalie congénitale Inferred relationship Some 1
    Abnormality of right atrial appendage Associated morphology False anomalie congénitale Inferred relationship Some 1
    Oesophageal atresia, stenosis and fistula Associated morphology False anomalie congénitale Inferred relationship Some 1
    Posteriorly rotated ear (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Infraorbital facial cleft - Tessier cleft 5 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital transverse mandibular hypoplasia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital absence of nasal septum Associated morphology False anomalie congénitale 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 anomalie congénitale Inferred relationship Some 1
    Other congenital anomalies of lower leg Associated morphology False anomalie congénitale Inferred relationship Some 1
    Balanced rearrangement or structural marker NEC NOS Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital anomaly of oral mucosa Associated morphology False anomalie congénitale Inferred relationship Some 1
    Mirror imaged atria Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cutaneous syndrome with ichthyosis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital epulis of newborn Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital conjunctival cyst Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital spondylolisthesis of cervical vertebra (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 3
    Soft tissue release for clubfoot Direct morphology False anomalie congénitale Inferred relationship Some 2
    Other anomalies of aorta NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Splayleg in piglets Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other congenital anomalies of forearm Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cortical dysplasia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomalies of uterus NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Camptodactyly-other or multiple Associated morphology False anomalie congénitale 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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