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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
    Congenital misalignment of arch of thoracic vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Klippel-Trenaunay-Weber syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Faun tail syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Nance-Horan syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital malposition of testis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Agyria Associated morphology False Developmental anomaly Inferred relationship Some 2
    Goniodysgenesis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Radioulnar synostosis and dislocation of radial head Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of prostate Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital megacolon Associated morphology False Developmental anomaly Inferred relationship Some 2
    Zebra body myopathy Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenitally small punctum lacrimale Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of hand (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Infantile pelvis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Metatarsus primus varus Associated morphology False Developmental anomaly Inferred relationship Some 3
    Ulegyria Associated morphology False Developmental anomaly Inferred relationship Some 2
    Transverse deficiency of arm, upper arm level - long Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cerebral cortical dysgenesis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital thickening of pubis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Pulmonary atresia with ventricular septal defect Associated morphology False Developmental anomaly Inferred relationship Some 2
    Osteopetrosis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Spina bifida aperta of cervical spine (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Spina bifida aperta of cervical spine (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Neuroenteric cyst and associated malformation Associated morphology False Developmental anomaly Inferred relationship Some 2
    Neurofibromatosis type 3 Associated morphology False Developmental anomaly Inferred relationship Some 3
    Occipital encephalocele Associated morphology False Developmental anomaly Inferred relationship Some 4
    Dumbbell-shaped cartilaginous centrum of cervical vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital pelvic obliquity (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital misalignment of centrum of sacral vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Dysgenesis of corpus callosum Associated morphology False Developmental anomaly Inferred relationship Some 2
    Proximal radioulnar synostosis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital diverticulum of pharynx Associated morphology False Developmental anomaly Inferred relationship Some 2
    Posteriorly rotated ear (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of supraoccipital bone Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital thickening of humerus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lack of ossification of metacarpal bone Associated morphology False Developmental anomaly Inferred relationship Some 2
    Undergrowth of whole hand Associated morphology False Developmental anomaly Inferred relationship Some 2
    Multifocal retinal dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Streak ovary Associated morphology False Developmental anomaly Inferred relationship Some 2
    Distal muscular dystrophy, Miyoshi type Associated morphology False Developmental anomaly Inferred relationship Some 3
    Ventricular septal defect with absent outlet septum and overriding truncal valve (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Myelatelia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Humeroulnar synostosis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Spina bifida with hydrocephalus Associated morphology False Developmental anomaly Inferred relationship Some 4
    Spina bifida with hydrocephalus Associated morphology False Developmental anomaly Inferred relationship Some 5
    Manus vara Associated morphology False Developmental anomaly Inferred relationship Some 3
    Irido-corneo-trabecular dysgenesis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Trilobed left lung Associated morphology False Developmental anomaly Inferred relationship Some 2
    Duplication of clitoris Associated morphology False Developmental anomaly Inferred relationship Some 2
    Muscular ventricular septal defect in trabecular septum (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Inherited arthrogryposis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Thoracic spina bifida with hydrocephalus - open Associated morphology False Developmental anomaly Inferred relationship Some 5
    Thoracic spina bifida with hydrocephalus - open Associated morphology False Developmental anomaly Inferred relationship Some 6
    Congenital ptosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Popliteal pterygium syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Situs inversus abdominalis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Spinal cord dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 3
    DiGeorge sequence Associated morphology False Developmental anomaly Inferred relationship Some 1
    Cornea plana Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lack of ossification of vomer Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital laryngocele Associated morphology False Developmental anomaly Inferred relationship Some 2
    Autosomal recessive muscular dystrophy with gene located at 15q Associated morphology False Developmental anomaly Inferred relationship Some 3
    Macromelia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of the hematopoietic system Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ectopic gray matter Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lobulated tongue Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital malposition of vas deferens Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital fusion of sacroiliac joint Associated morphology False Developmental anomaly Inferred relationship Some 3
    Splenogonadal fusion Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital cyst of posterior segment of eye Associated morphology False Developmental anomaly Inferred relationship Some 3
    Ectopic tissue in lung Associated morphology False Developmental anomaly Inferred relationship Some 2
    Autosomal recessive centronuclear myopathy Associated morphology False Developmental anomaly Inferred relationship Some 2
    Platypellic pelvis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lack of ossification of centrum of cervical vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Combined malformation of central nervous system and skeletal muscle (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Walker-Warburg congenital muscular dystrophy Associated morphology False Developmental anomaly Inferred relationship Some 5
    Posterior segment vascular anomalies Associated morphology False Developmental anomaly Inferred relationship Some 4
    Confluent muscular ventricular septal defect (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of finger Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital bent pubis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Omphalocele with obstruction Associated morphology False Developmental anomaly Inferred relationship Some 6
    Incomplete ossification of tarsal bone Associated morphology False Developmental anomaly Inferred relationship Some 2
    Colpocephaly Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cervical spina bifida without hydrocephalus - closed Associated morphology False Developmental anomaly Inferred relationship Some 3
    Cervical spina bifida without hydrocephalus - closed Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital ankyloblepharon Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of lower trunk Associated morphology False Developmental anomaly Inferred relationship Some 2
    Morning glory disc Associated morphology False Developmental anomaly Inferred relationship Some 2
    Localized cortical dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Multiple neurofibromas in neurofibromatosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Duplication of the whole foot Associated morphology False Developmental anomaly Inferred relationship Some 2
    Periventricular leucomalacia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Thoracic hydromeningocele Associated morphology False Developmental anomaly Inferred relationship Some 4
    Hypertelorism Associated morphology False Developmental anomaly Inferred relationship Some 3
    Sotos' syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Female Kallman's syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Incomplete ossification of femur Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lungs in mirror image arrangement (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Familial multiple café-au-lait macules without neurofibromatosis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Borjeson-Forssman-Lehmann syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Elephantiasis neurofibromatosa (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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