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21390004: Developmental anomaly (morphologic abnormality)


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

    Descriptions:

    Id Description Lang Type Status Case? Module
    183282017 Developmental anomaly en Synonym Active Entire term case insensitive SNOMED CT core module
    190336012 Developmental malformation en Synonym Active Entire term case insensitive SNOMED CT core module
    190337015 Developmental defect en Synonym Active Entire term case insensitive SNOMED CT core module
    190338013 Dysgenesis en Synonym Active Entire term case insensitive SNOMED CT core module
    190339017 Anomalous formation en Synonym Active Entire term case insensitive SNOMED CT core module
    190340015 Abnormal development en Synonym Active Entire term case insensitive SNOMED CT core module
    190341016 Malformation en Synonym Active Entire term case insensitive SNOMED CT core module
    750678013 Developmental anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module
    1208681014 Developmental abnormality en Synonym Active Entire term case insensitive SNOMED CT core module


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Developmental anomaly Is a Congenital anomaly false Inferred relationship Existential restriction modifier
    Developmental anomaly Is a Morphologically abnormal structure false Inferred relationship Existential restriction modifier

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

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    This concept is not in any reference sets

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