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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 anomaly of radius Associated morphology False Developmental anomaly Inferred relationship Some 2
    Incomplete ossification of tibia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Jervell and Lange-Nielsen syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Fissured spine Associated morphology False Developmental anomaly Inferred relationship Some 3
    Fissured spine Associated morphology False Developmental anomaly Inferred relationship Some 4
    Recurrent ventricular component of atrioventricular septal defect after prior cardiovascular surgical procedure (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Microhepatia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Bipartite ossification of centrum of cervical vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Horizontal orbital dystopia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lack of ossification of arch of cervical vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Bilobed right lung Associated morphology False Developmental anomaly Inferred relationship Some 2
    Melanosis oculi (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Olive dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ichthyosis congenita with biliary atresia Associated morphology False Developmental anomaly Inferred relationship Some 4
    Multiple ventricular septal defects Associated morphology False Developmental anomaly Inferred relationship Some 2
    Bridging bronchus (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Anterior chamber cleavage syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lack of ossification of radius Associated morphology False Developmental anomaly Inferred relationship Some 2
    Diastematomyelia Associated morphology False Developmental anomaly Inferred relationship Some 3
    Supernumerary tarsal bone Associated morphology False Developmental anomaly Inferred relationship Some 2
    Persistent hyaloid artery Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of macula Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lumbar spina bifida without hydrocephalus - closed (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Lumbar spina bifida without hydrocephalus - closed (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital hydrocephalus Associated morphology False Developmental anomaly Inferred relationship Some 3
    Spina bifida with stenosis of aqueduct of Sylvius Associated morphology False Developmental anomaly Inferred relationship Some 4
    Dislocatable hip Associated morphology False Developmental anomaly Inferred relationship Some 2
    Manus extensa Associated morphology False Developmental anomaly Inferred relationship Some 3
    Total intestinal aganglionosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Thyroglossal duct cyst Associated morphology False Developmental anomaly Inferred relationship Some 3
    Patent ductus arteriosus with left-to-right shunt Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital fissure of tongue Associated morphology False Developmental anomaly Inferred relationship Some 2
    Diffuse retinal dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Muscle-eye-brain disease, congenital muscular dystrophy Associated morphology False Developmental anomaly Inferred relationship Some 3
    Simple omphalocele Associated morphology False Developmental anomaly Inferred relationship Some 6
    Lissencephaly Associated morphology False Developmental anomaly Inferred relationship Some 2
    Abnormality of canalization and retrogressive differentiation (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital misalignment of centrum of lumbar vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Aganglionosis of parasympathetic nerve ganglia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital cystic lung Associated morphology False Developmental anomaly Inferred relationship Some 2
    Exencephaly Associated morphology False Developmental anomaly Inferred relationship Some 5
    Congenital entropion Associated morphology False Developmental anomaly Inferred relationship Some 3
    Blunderbuss pelvis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Rachischisis with hydrocephalus Associated morphology False Developmental anomaly Inferred relationship Some 6
    Rachischisis with hydrocephalus Associated morphology False Developmental anomaly Inferred relationship Some 7
    Congenital varus deformity of foot Associated morphology False Developmental anomaly Inferred relationship Some 4
    Sternum bifidum Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital bent ulna Associated morphology False Developmental anomaly Inferred relationship Some 2
    Acrania Associated morphology False Developmental anomaly Inferred relationship Some 4
    Thoracic spina bifida with hydrocephalus - closed Associated morphology False Developmental anomaly Inferred relationship Some 4
    Thoracic spina bifida with hydrocephalus - closed Associated morphology False Developmental anomaly Inferred relationship Some 5
    Myopathy with abnormality of histochemical fibre type Associated morphology False Developmental anomaly Inferred relationship Some 2
    Pseudocryptorchism Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of limb Associated morphology False Developmental anomaly Inferred relationship Some 2
    Situs inversus viscerum Associated morphology False Developmental anomaly Inferred relationship Some 3
    Bronchial atresia with segmental pulmonary emphysema Associated morphology False Developmental anomaly Inferred relationship Some 5
    Congenital anomaly of skeletal muscle Associated morphology False Developmental anomaly Inferred relationship Some 2
    Nemaline myopathy, early onset type Associated morphology False Developmental anomaly Inferred relationship Some 2
    Euryblepharon (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Os trigonum Associated morphology False Developmental anomaly Inferred relationship Some 2
    Bipartite ossification of centrum of thoracic vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital hypoplasia of finger (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Traumatic interventricular septal defect Associated morphology False Developmental anomaly Inferred relationship Some 3
    Deventer's pelvis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital mesocolic hernia Associated morphology False Developmental anomaly Inferred relationship Some 3
    Infantile malignant osteopetrosis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Synchilia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital abnormal fusion of arch of lumbar vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Sarcotubular myopathy Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital malposition of ilium Associated morphology False Developmental anomaly Inferred relationship Some 2
    Radial polydactyly Wassel 4 Associated morphology False Developmental anomaly Inferred relationship Some 2
    Bipartite ossification of supraoccipital bone Associated morphology False Developmental anomaly Inferred relationship Some 2
    Muscular ventricular septal defect in central trabecular septum Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital hyperflexion of limb Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital bilateral perisylvian syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Irido-corneal dysgenesis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anterior staphyloma Associated morphology False Developmental anomaly Inferred relationship Some 3
    Common arterial trunk with obstruction of aortic arch (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Radial polydactyly Wassel 7 Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lack of ossification of ulna Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital fusion of testis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Postaxial polydactyly of toe Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cleft hand with polydactyly Associated morphology False Developmental anomaly Inferred relationship Some 3
    Biliary anomalies Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hereditary neurocutaneous angiomata (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Increased anogenital distance Associated morphology False Developmental anomaly Inferred relationship Some 2
    Symbrachydactyly of toe (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ventricular septal defect of inlet of right aspect of ventricular septum (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of vertebral region of back Associated morphology False Developmental anomaly Inferred relationship Some 1
    Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Epiblepharon (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lack of ossification of talus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Blue sclera (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lumbar myelocystocele Associated morphology False Developmental anomaly Inferred relationship Some 3
    Lumbar myelocystocele Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital anomaly of ilium Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital torticollis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Retinal dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Specified anomalies of sclera Associated morphology False Developmental anomaly Inferred relationship Some 2
    Sacral spina bifida with hydrocephalus - open (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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