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21390004: Developmental anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    183282017 Developmental anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190336012 Developmental malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190337015 Developmental defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190338013 Dysgenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190339017 Anomalous formation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190340015 Abnormal development en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190341016 Malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    750678013 Developmental anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    1208681014 Developmental abnormality en Synonym (core metadata concept) 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
    Developmental anomaly Is a Congenital anomaly false Inferred relationship Some
    Developmental anomaly Is a Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Elephantiasis neurofibromatosa (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital cataract Associated morphology False Developmental anomaly Inferred relationship Some 1
    Axenfeld anomaly Associated morphology False Developmental anomaly Inferred relationship Some 5
    Fundus coloboma Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lack of ossification of carpal bone Associated morphology False Developmental anomaly Inferred relationship Some 2
    Atlanto-occipital malformation Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lack of ossification of tibia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Known OR suspected fetal anencephaly affecting obstetrical care Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital anomaly of large intestine Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of bronchus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Retinal arteriovenous shunt Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital malposition of ulna Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital thickening of tibia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Spina bifida with hydrocephalus - open Associated morphology False Developmental anomaly Inferred relationship Some 5
    Spina bifida with hydrocephalus - open Associated morphology False Developmental anomaly Inferred relationship Some 6
    Congenital tracheo-oesophageal cleft Associated morphology False Developmental anomaly Inferred relationship Some 5
    Developmental anomaly of vitelline duct (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital anomaly of oral mucosa Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital zonular cataract Associated morphology False Developmental anomaly Inferred relationship Some 1
    Branchial cleft Associated morphology False Developmental anomaly Inferred relationship Some 2
    Branchial cleft Associated morphology False Developmental anomaly Inferred relationship Some 3
    Branchial cleft Associated morphology False Developmental anomaly Inferred relationship Some 4
    Mesoaxial polydactyly of toe Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital cystic adenomatoid malformation of lung Associated morphology False Developmental anomaly Inferred relationship Some 2
    Muscular ventricular septal defect in inlet septum Associated morphology False Developmental anomaly Inferred relationship Some 2
    Multiple brain anomalies Associated morphology False Developmental anomaly Inferred relationship Some 2
    Supernumerary centrum of thoracic vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital umbilical defect Associated morphology False Developmental anomaly Inferred relationship Some 3
    Hemimyelocele Associated morphology False Developmental anomaly Inferred relationship Some 3
    Hemimyelocele Associated morphology False Developmental anomaly Inferred relationship Some 4
    Incomplete ossification of lacrimal bone Associated morphology False Developmental anomaly Inferred relationship Some 2
    Acephalocheiria Associated morphology False Developmental anomaly Inferred relationship Some 5
    Congenital hiatus hernia Associated morphology False Developmental anomaly Inferred relationship Some 5
    Congenital absence of leg with foot AND toes Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ventricular septal defect between left ventricle and right atrium Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of spermatic cord Associated morphology False Developmental anomaly Inferred relationship Some 3
    Transverse deficiency of arm, upper arm level - short Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hutterite type of muscular dystrophy Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital thickening of fibula Associated morphology False Developmental anomaly Inferred relationship Some 2
    Microcornea Associated morphology False Developmental anomaly Inferred relationship Some 2
    Glycogenosis with glucoaminophosphaturia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Duplication of tibia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Imperforate large intestine Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital absence of leg and foot Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of humerus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Dysplastic ovary Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital miosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital malrotation of limb Associated morphology False Developmental anomaly Inferred relationship Some 2
    Duane's syndrome, type 2 Associated morphology False Developmental anomaly Inferred relationship Some 2
    Bertolotti's syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of epiglottis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Retinal hemangioblastomatosis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital fissure of sternum Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital abnormality of foot and toes (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Dubin-Johnson syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cerebro-costo-mandibular syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Specified anomalies of choroid Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cortical dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Craniometaphyseal dysplasia - severe type Associated morphology False Developmental anomaly Inferred relationship Some 4
    Lumbar spina bifida with hydrocephalus - open Associated morphology False Developmental anomaly Inferred relationship Some 6
    Lumbar spina bifida with hydrocephalus - open Associated morphology False Developmental anomaly Inferred relationship Some 7
    Bilateral bilobed lungs due to isomerism of left lung (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Multiple anterior segment anomalies Associated morphology False Developmental anomaly Inferred relationship Some 2
    Diplomyelia Associated morphology False Developmental anomaly Inferred relationship Some 3
    Pure gonadal dysgenesis 46,XY Associated morphology False Developmental anomaly Inferred relationship Some 3
    Aprosencephaly Associated morphology False Developmental anomaly Inferred relationship Some 2
    Radial polydactyly Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lipomeningocele Associated morphology False Developmental anomaly Inferred relationship Some 4
    Abnormality of neurogenesis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ventricular septal defect, repaired Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lack of ossification of lacrimal bone Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital malformation of thumb (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of bile ducts Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hypomyelinogenesis congenita Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital abnormality of external ear Associated morphology False Developmental anomaly Inferred relationship Some 2
    Nasal glial heterotopia (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital overgrowth of lower limb Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lack of ossification of centrum of thoracic vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Radial polydactyly Wassel 5 Associated morphology False Developmental anomaly Inferred relationship Some 2
    Reunion-Indiana Amish type muscular dystrophy Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of pubis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital floating liver (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Optic disc vascular anomaly Associated morphology False Developmental anomaly Inferred relationship Some 2
    Exstrophy of cloaca sequence Associated morphology False Developmental anomaly Inferred relationship Some 7
    Exstrophy of cloaca sequence Associated morphology False Developmental anomaly Inferred relationship Some 10
    Congenital thickening of scapula Associated morphology False Developmental anomaly Inferred relationship Some 2
    Nasopharyngeal encephalocele Associated morphology False Developmental anomaly Inferred relationship Some 5
    Congenital thickening of tarsal bone Associated morphology False Developmental anomaly Inferred relationship Some 2
    Rudimentary nipple Associated morphology False Developmental anomaly Inferred relationship Some 2
    Spina bifida without hydrocephalus - open Associated morphology False Developmental anomaly Inferred relationship Some 3
    Spina bifida without hydrocephalus - open Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital misalignment of pubis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Duane's syndrome, type 1 Associated morphology False Developmental anomaly Inferred relationship Some 2
    Doubly committed ventricular septal defect in double outlet ventriculoarterial connection (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital enlargement of nasopharynx Associated morphology False Developmental anomaly Inferred relationship Some 1
    Persistent human tail Associated morphology False Developmental anomaly Inferred relationship Some 2
    Multiple muscular ventricular septum defect Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ventricular septal defect with malaligned outlet septum to right (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Spina bifida of lumbar region Associated morphology False Developmental anomaly Inferred relationship Some 3
    Spina bifida of lumbar region Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital anomaly of radius Associated morphology False Developmental anomaly Inferred relationship Some 2

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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