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21390004: Developmental anomaly (morphologic abnormality)

    Status: retired, Primitive. Date: 31-Jul 2021. Module: SNOMED CT core

    Descriptions:

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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Developmental abnormality Is a Morphologically abnormal structure false Inferred relationship Some
    Developmental abnormality Is a Congenital anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Podencephalus Associated morphology False Developmental abnormality Inferred relationship Some 2
    Intracardiac location of anomalous pulmonary venous connection Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital maxillary asymmetry Associated morphology False Developmental abnormality Inferred relationship Some 2
    Lack of ossification of palatine bone Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital woolly hair Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital blind loop syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Lack of ossification of premaxilla Associated morphology False Developmental abnormality Inferred relationship Some 3
    Double aortic arch with right arch dominant and atresia of left arch and left ligament to diverticulum Associated morphology False Developmental abnormality Inferred relationship Some 3
    Hydranencephaly Associated morphology False Developmental abnormality Inferred relationship Some 2
    Common arterial trunk with isolated pulmonary artery Associated morphology False Developmental abnormality Inferred relationship Some 4
    Double aortic arch with unilateral atresia Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital anomaly of pituitary gland Associated morphology False Developmental abnormality Inferred relationship Some 2
    Parallel course of aorta and pulmonary artery Associated morphology False Developmental abnormality Inferred relationship Some 2
    Café-au-lait macules with pulmonary stenosis Associated morphology False Developmental abnormality Inferred relationship Some 2
    Sinus pericranii Associated morphology False Developmental abnormality Inferred relationship Some 2
    Inferior caval vein connecting to right atrium and left atrium Associated morphology False Developmental abnormality Inferred relationship Some 2
    Uncombable hair syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Encephalocystocele Associated morphology False Developmental abnormality Inferred relationship Some 3
    Sjögren-Larsson syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital anomaly of face Associated morphology False Developmental abnormality Inferred relationship Some 2
    Genitoperineal raphe cyst Associated morphology False Developmental abnormality Inferred relationship Some 2
    Persistent cloaca Associated morphology False Developmental abnormality Inferred relationship Some 3
    Rudimentary uterus in male Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital anomaly of anus Associated morphology False Developmental abnormality Inferred relationship Some 3
    Port-wine stain with associated anomalies Associated morphology False Developmental abnormality Inferred relationship Some 2
    Anomalous course of coronary artery anterior to pulmonary trunk Associated morphology False Developmental abnormality Inferred relationship Some 1
    Complete transposition of great vessels Associated morphology False Developmental abnormality Inferred relationship Some 3
    Jackson's membrane Associated morphology False Developmental abnormality Inferred relationship Some 2
    Lack of ossification of exoccipital bone Associated morphology False Developmental abnormality Inferred relationship Some 2
    Frontal encephalocele Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital abnormality of nose and nasopharynx Associated morphology False Developmental abnormality Inferred relationship Some 2
    Circumflex runs posterior to pulmonary trunk Associated morphology False Developmental abnormality Inferred relationship Some 2
    Port-wine stain in Rubinstein-Taybi syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Single coronary artery dividing into right coronary artery and left coronary artery Associated morphology False Developmental abnormality Inferred relationship Some 1
    Tuberous sclerosis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Capillary-venous malformation Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital scar Associated morphology False Developmental abnormality Inferred relationship Some 3
    Coarctation of left pulmonary artery Associated morphology False Developmental abnormality Inferred relationship Some 2
    Left aortic arch and right descending aorta Associated morphology False Developmental abnormality Inferred relationship Some 2
    Major systemic to pulmonary collateral artery supplying entire left lung Associated morphology False Developmental abnormality Inferred relationship Some 1
    Ventricular septal defect in Fallot's tetralogy Associated morphology False Developmental abnormality Inferred relationship Some 5
    Incomplete ossification of premaxilla Associated morphology False Developmental abnormality Inferred relationship Some 3
    Incomplete ossification of alisphenoid bone Associated morphology False Developmental abnormality Inferred relationship Some 2
    Intracardiac location of anomalous pulmonary venous connection to right atrium Associated morphology False Developmental abnormality Inferred relationship Some 2
    Verrucous haemangioma of skin Associated morphology False Developmental abnormality Inferred relationship Some 1
    Double aortic arch with both patent Associated morphology False Developmental abnormality Inferred relationship Some 2
    Weber's true diffuse phlebarteriectasis Associated morphology False Developmental abnormality Inferred relationship Some 3
    Incomplete ossification of exoccipital bone Associated morphology False Developmental abnormality Inferred relationship Some 2
    Systemic to pulmonary collateral artery connecting with isolated intraparenchymal pulmonary arteries Associated morphology False Developmental abnormality Inferred relationship Some 1
    Angiokeratoma circumscriptum Associated morphology False Developmental abnormality Inferred relationship Some 4
    Ichthyosis hystrix Associated morphology False Developmental abnormality Inferred relationship Some 2
    Anomalous pulmonary venous drainage to right atrium Associated morphology False Developmental abnormality Inferred relationship Some 3
    Autosomal dominant ichthyosis vulgaris Associated morphology False Developmental abnormality Inferred relationship Some 2
    Major systemic to pulmonary collateral artery supplying unknown zone of distribution Associated morphology False Developmental abnormality Inferred relationship Some 1
    Pharyngeal pituitary tissue Associated morphology False Developmental abnormality Inferred relationship Some 1
    Harlequin ichthyosis Associated morphology False Developmental abnormality Inferred relationship Some 2
    Encephalocele of orbit Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital anomaly of pulmonary artery Associated morphology False Developmental abnormality Inferred relationship Some 2
    Abnormal coronary artery course Associated morphology False Developmental abnormality Inferred relationship Some 2
    Lack of ossification of basisphenoid bone Associated morphology False Developmental abnormality Inferred relationship Some 2
    Pili torti-deafness syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Peutz-Jeghers polyps of small bowel Associated morphology False Developmental abnormality Inferred relationship Some 4
    Congenital cyst of adrenal gland Associated morphology False Developmental abnormality Inferred relationship Some 3
    Imperforate anus Associated morphology False Developmental abnormality Inferred relationship Some 2
    Pulmonary tuberous sclerosis Associated morphology False Developmental abnormality Inferred relationship Some 2
    Anomalous insertion of arterial duct into pulmonary trunk Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital redundant colon Associated morphology False Developmental abnormality Inferred relationship Some 2
    Neonatal cutis laxa with marfanoid phenotype Associated morphology False Developmental abnormality Inferred relationship Some 2
    Neurofibromatosis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Ichthyosis follicularis with alopecia and photophobia (IFAP) Associated morphology False Developmental abnormality Inferred relationship Some 2
    Port-wine stain associated with spinal dysraphism Associated morphology False Developmental abnormality Inferred relationship Some 3
    Port-wine stain associated with spinal dysraphism Associated morphology False Developmental abnormality Inferred relationship Some 4
    Congenital hypertrichosis Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital pulmonary arteriovenous aneurysm Associated morphology False Developmental abnormality Inferred relationship Some 2
    Crouzon syndrome with acanthosis nigricans Associated morphology False Developmental abnormality Inferred relationship Some 6
    Congenital overgrowth of partial lower limb Associated morphology False Developmental abnormality Inferred relationship Some 2
    Aicardi's syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Oculodento-osseous dysplasia - severe type Associated morphology False Developmental abnormality Inferred relationship Some 3
    Humeroradial synostosis Associated morphology False Developmental abnormality Inferred relationship Some 2
    Situs inversus thoracis Associated morphology False Developmental abnormality Inferred relationship Some 2
    Polyorchism Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital anomaly of ocular adnexa Associated morphology False Developmental abnormality Inferred relationship Some 2
    Sirenoform monster Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital web of larynx Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital misalignment of arch of sacral vertebra Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital pseudoporencephaly Associated morphology False Developmental abnormality Inferred relationship Some 2
    Pancreatic duct anomaly Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital malformation of angle of anterior chamber of eye Associated morphology False Developmental abnormality Inferred relationship Some 2
    Distal muscular dystrophy with juvenile onset Associated morphology False Developmental abnormality Inferred relationship Some 3
    Excessive restriction of ventricular septal defect as complication of procedure Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital anomaly of visual system Associated morphology False Developmental abnormality Inferred relationship Some 3
    Fibrous skin tumour of tuberous sclerosis Associated morphology False Developmental abnormality Inferred relationship Some 4
    Severe autosomal recessive muscular dystrophy of childhood - North African type Associated morphology False Developmental abnormality Inferred relationship Some 3
    Known OR suspected fetal hydrocephalus affecting obstetrical care Associated morphology False Developmental abnormality Inferred relationship Some 2
    Schizencephaly Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital sclerocornea Associated morphology False Developmental abnormality Inferred relationship Some 3
    Adult onset autosomal recessive muscular dystrophy with normal dystrophin Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital sequestration of lung Associated morphology False Developmental abnormality Inferred relationship Some 2
    Brachymetapody Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital myopathy with abnormal subcellular organelles Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital anomaly of digit Associated morphology False Developmental abnormality Inferred relationship Some 2

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