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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
    64781000077117 anomalie du développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    anomalie du développement Is a anomalie congénitale false Inferred relationship Some
    anomalie du développement Is a Morphologically abnormal structure false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Intracardiac location of anomalous pulmonary venous connection (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital maxillary asymmetry Associated morphology False anomalie du développement Inferred relationship Some 2
    Lack of ossification of palatine bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital woolly hair Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital blind loop syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Lack of ossification of premaxilla Associated morphology False anomalie du développement Inferred relationship Some 3
    Double aortic arch with right arch dominant and atresia of left arch and left ligament to diverticulum (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Common arterial trunk with isolated pulmonary artery (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Double aortic arch with unilateral atresia Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of pituitary gland Associated morphology False anomalie du développement Inferred relationship Some 2
    Parallel course of aorta and pulmonary artery (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Café-au-lait macules with pulmonary stenosis (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Sinus pericranii Associated morphology False anomalie du développement Inferred relationship Some 2
    Inferior vena cava connecting to right atrium and left atrium (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Uncombable hair syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Encephalocystocele Associated morphology False anomalie du développement Inferred relationship Some 3
    Sjögren-Larsson syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of face (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Genitoperineal raphe cyst Associated morphology False anomalie du développement Inferred relationship Some 2
    Persistent cloaca (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Rudimentary uterus in male Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital anomaly of anus Associated morphology False anomalie du développement Inferred relationship Some 3
    Port-wine stain with associated anomalies (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Anomalous course of coronary artery anterior to pulmonary trunk (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Complete transposition of great vessels Associated morphology False anomalie du développement Inferred relationship Some 3
    Jackson's membrane Associated morphology False anomalie du développement Inferred relationship Some 2
    Lack of ossification of exoccipital bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Frontal encephalocele Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital abnormality of nose and nasopharynx Associated morphology False anomalie du développement Inferred relationship Some 2
    Circumflex runs posterior to pulmonary trunk Associated morphology False anomalie du développement Inferred relationship Some 2
    Port-wine stain in Rubinstein-Taybi syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Single coronary artery dividing into right coronary artery and left coronary artery (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Tuberous sclerosis syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Capillary-venous malformation Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital scar Associated morphology False anomalie du développement Inferred relationship Some 3
    Coarctation of left pulmonary artery (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Left aortic arch and right descending aorta Associated morphology False anomalie du développement Inferred relationship Some 2
    Major systemic to pulmonary collateral artery supplying entire left lung (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Ventricular septal defect in Fallot's tetralogy Associated morphology False anomalie du développement Inferred relationship Some 5
    Incomplete ossification of premaxilla Associated morphology False anomalie du développement Inferred relationship Some 3
    Incomplete ossification of alisphenoid bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Intracardiac location of anomalous pulmonary venous connection to right atrium (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Verrucous hemangioma of skin Associated morphology False anomalie du développement Inferred relationship Some 1
    Double aortic arch with both patent Associated morphology False anomalie du développement Inferred relationship Some 2
    Weber's true diffuse phlebarteriectasis Associated morphology False anomalie du développement Inferred relationship Some 3
    Incomplete ossification of exoccipital bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Systemic to pulmonary collateral artery connecting with isolated intraparenchymal pulmonary arteries (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Angiokeratoma circumscriptum Associated morphology False anomalie du développement Inferred relationship Some 4
    Ichthyosis hystrix Associated morphology False anomalie du développement Inferred relationship Some 2
    Anomalous pulmonary venous drainage to right atrium Associated morphology False anomalie du développement Inferred relationship Some 3
    Autosomal dominant ichthyosis vulgaris Associated morphology False anomalie du développement Inferred relationship Some 2
    Major systemic to pulmonary collateral artery supplying unknown zone of distribution Associated morphology False anomalie du développement Inferred relationship Some 1
    Pharyngeal pituitary tissue Associated morphology False anomalie du développement Inferred relationship Some 1
    Harlequin ichthyosis Associated morphology False anomalie du développement Inferred relationship Some 2
    Encephalocele of orbit Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital anomaly of pulmonary artery Associated morphology False anomalie du développement Inferred relationship Some 2
    Abnormal coronary artery course Associated morphology False anomalie du développement Inferred relationship Some 2
    Lack of ossification of basisphenoid bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Pili torti-deafness syndrome Associated morphology False anomalie du développement Inferred relationship Some 3
    Peutz-Jeghers polyps of small bowel Associated morphology False anomalie du développement Inferred relationship Some 4
    Congenital cyst of adrenal gland Associated morphology False anomalie du développement Inferred relationship Some 3
    Imperforate anus Associated morphology False anomalie du développement Inferred relationship Some 2
    Pulmonary tuberous sclerosis (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Anomalous insertion of ductus arteriosus into pulmonary trunk (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital redundant colon Associated morphology False anomalie du développement Inferred relationship Some 2
    Neonatal cutis laxa with marfanoid phenotype Associated morphology False anomalie du développement Inferred relationship Some 2
    Neurofibromatosis syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Ichthyosis follicularis with alopecia and photophobia (IFAP) Associated morphology False anomalie du développement Inferred relationship Some 2
    Port-wine stain associated with spinal dysraphism (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Port-wine stain associated with spinal dysraphism (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Congenital hypertrichosis Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital pulmonary arteriovenous aneurysm Associated morphology False anomalie du développement Inferred relationship Some 2
    A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance. Associated morphology False anomalie du développement Inferred relationship Some 6
    Congenital overgrowth of partial lower limb Associated morphology False anomalie du développement Inferred relationship Some 2
    Aicardi's syndrome Associated morphology False anomalie du développement Inferred relationship Some 7
    Oculodento-osseous dysplasia - severe type Associated morphology False anomalie du développement Inferred relationship Some 3
    Humeroradial synostosis Associated morphology False anomalie du développement Inferred relationship Some 2
    Situs inversus thoracis Associated morphology False anomalie du développement Inferred relationship Some 2
    Polyorchism Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital anomaly of ocular adnexa Associated morphology False anomalie du développement Inferred relationship Some 2
    Sirenoform monster Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital web of larynx Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital misalignment of arch of sacral vertebra Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital pseudoporencephaly Associated morphology False anomalie du développement Inferred relationship Some 2
    Pancreatic duct anomaly Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital malformation of angle of anterior chamber of eye Associated morphology False anomalie du développement Inferred relationship Some 2
    Distal muscular dystrophy with juvenile onset Associated morphology False anomalie du développement Inferred relationship Some 3
    Excessive restriction of ventricular septal defect as complication of procedure Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital anomaly of visual system Associated morphology False anomalie du développement Inferred relationship Some 3
    Fibrous skin tumor of tuberous sclerosis Associated morphology False anomalie du développement Inferred relationship Some 4
    Severe autosomal recessive muscular dystrophy of childhood - North African type Associated morphology False anomalie du développement Inferred relationship Some 3
    Known OR suspected fetal hydrocephalus affecting obstetrical care Associated morphology False anomalie du développement Inferred relationship Some 2
    Schizencephaly Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital sclerocornea Associated morphology False anomalie du développement Inferred relationship Some 3
    Adult onset autosomal recessive muscular dystrophy with normal dystrophin (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital sequestration of lung (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Brachymetapody Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital myopathy with abnormal subcellular organelles Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of digit (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Patent vitelline duct (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Incomplete ossification of tympanic anulus Associated morphology False anomalie du développement Inferred relationship Some 2

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    Concept inactivation indicator reference set

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    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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