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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
    Persistent left superior vena cava Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of epidermal appendages Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of intestinal tract Associated morphology False anomalie du développement Inferred relationship Some 2
    Supracardiac location of anomalous pulmonary venous connection to right sided vertical vein (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of integument Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital splenorenal shunt Associated morphology False anomalie du développement Inferred relationship Some 3
    Double aortic arch with right arch dominant and coarctation of left arch (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Inferior vena cava to left of spine Associated morphology False anomalie du développement Inferred relationship Some 2
    Porcupine man Associated morphology False anomalie du développement Inferred relationship Some 2
    Bilateral patent arterial ducts Associated morphology False anomalie du développement Inferred relationship Some 1
    Hereditary vascular fragility Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital flat back deformity (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Incomplete ossification of squamosal bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital pigmentary skin anomalies Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital hypertrichosis lanuginosa (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Hypertrichosis with congenital macrogingivae (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Systemic to pulmonary collateral artery from right brachiocephalic artery (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital anomaly of basisphenoid bone Associated morphology False anomalie du développement Inferred relationship Some 3
    Embryonic cyst Is a False anomalie du développement Inferred relationship Some
    Hypotrichosis with keratosis pilaris and lentiginosis Associated morphology False anomalie du développement Inferred relationship Some 2
    Supracardiac location of anomalous pulmonary venous connection (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Pulmonary venous confluence in horizontal orientation (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of alisphenoid bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of interparietal bone (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of superior vena cava Associated morphology False anomalie du développement Inferred relationship Some 2
    Anomalous pulmonary venous connection of mixed type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Multiple café-au-lait macules due to neurofibromatosis (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Midline cervical cleft (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Bayonet hair Associated morphology False anomalie du développement Inferred relationship Some 2
    Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Crouzon disease is characterised by craniosynostosis and facial hypoplasia. Associated morphology False anomalie du développement Inferred relationship Some 4
    Frontoethmoidal encephalocele Associated morphology False anomalie du développement Inferred relationship Some 2
    Interrupted aortic arch between left subclavian and left common carotid artery Associated morphology False anomalie du développement Inferred relationship Some 2
    Descending aorta anterior and same side as azygos vein with azygos continuity of inferior vena cava (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Scimitar syndrome with additional anomalous pulmonary venous connection (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital vascular malformation of lip (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of adrenal gland Associated morphology False anomalie du développement Inferred relationship Some 2
    Circumflex runs posterior to aorta Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of basioccipital bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Pili annulati Associated morphology False anomalie du développement Inferred relationship Some 2
    Craniofacial microsomia Associated morphology False anomalie du développement Inferred relationship Some 2
    Neurocutaneous syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Bilateral superior vena cava Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of palatine bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Ichthyosis hystrix Bäfverstedt type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Left superior caval vein persisting to left sided atrium (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Kommerell's diverticulum Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of lower alimentary tract Associated morphology False anomalie du développement Inferred relationship Some 2
    Bipartite ossification of interparietal bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Common arterial trunk with crossed over pulmonary arteries (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Axillary freckling due to neurofibromatosis (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Anomalous pulmonary venous drainage to superior vena cava Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital enlargement of fontanel Associated morphology False anomalie du développement Inferred relationship Some 1
    Mesenteric cyst Associated morphology False anomalie du développement Inferred relationship Some 4
    Nasofrontal encephalocele Associated morphology False anomalie du développement Inferred relationship Some 4
    Venous valvular anomaly Associated morphology False anomalie du développement Inferred relationship Some 2
    A rare type of keratinopathic ichthyosis characterised by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma. The skin is usually normal at birth. The disease starts in early childhood with severe hyperkeratosis of yellow-brown or grey colour, and of spiky, cobblestone-like (hystrix) or verrucous appearance. Contrary to other keratinopathic ichthyoses, no skin fragility/blister formation or erythroderma is present. The disease results from heterozygous frameshift mutation in a section of the KRT1 gene encoding keratin 1 (K1). These mutations lead to an abnormal supramolecular organisation of keratin intermediate filaments and may be related to defects in cytoplasmic trafficking and integrity of cellular structures such as organelles and nucleus. Transmission is autosomal dominant but some sporadic cases have been reported. Associated morphology False anomalie du développement Inferred relationship Some 2
    Cervical thyroid remnant Associated morphology False anomalie du développement Inferred relationship Some 2
    Infracardiac location of anomalous pulmonary venous connection to hepatic vein (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Cutaneous syndrome with ichthyosis Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital cardiovascular disorder in mother complicating pregnancy, childbirth AND/OR puerperium Associated morphology False anomalie du développement Inferred relationship Some 2
    Preauricular cyst (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Venous-lymphatic malformation Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital oesophageal ring Associated morphology False anomalie du développement Inferred relationship Some 2
    Hereditary benign intraepithelial dyskeratosis (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Vascular compression of esophagus by aberrant right subclavian artery arising from descending aorta Associated morphology False anomalie du développement Inferred relationship Some 4
    Lack of ossification of frontal bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Interrupted aortic arch (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Anomalous insertion of ductus arteriosus into distal left pulmonary artery (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Vascular neurocutaneous syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Sturge-Weber syndrome Associated morphology False anomalie du développement Inferred relationship Some 4
    Localised bullous ichthyosiform erythroderma Associated morphology False anomalie du développement Inferred relationship Some 2
    BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Common arterial trunk and common origin of pulmonary arteries (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Double aortic arch with right arch dominant and atresia of left arch (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Splenoportal vascular anomaly Associated morphology False anomalie du développement Inferred relationship Some 2
    Lack of ossification of presphenoid bone Associated morphology False anomalie du développement Inferred relationship Some 2
    Naso-palatine duct cyst Associated morphology False anomalie du développement Inferred relationship Some 3
    Pentalogy of Fallot Associated morphology False anomalie du développement Inferred relationship Some 6
    Systemic to pulmonary collateral artery Associated morphology False anomalie du développement Inferred relationship Some 1
    Interruption of coronary artery Associated morphology False anomalie du développement Inferred relationship Some 1
    Pulmonary venous confluence in direct proximity to left atrium (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Lack of ossification of maxilla Associated morphology False anomalie du développement Inferred relationship Some 2
    Double aortic arch with right arch dominant and left arch patent (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital hypotrichia Associated morphology False anomalie du développement Inferred relationship Some 2
    Potter's facies Associated morphology False anomalie du développement Inferred relationship Some 2
    Incontinentia pigmenti syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Cutis laxa, autosomal dominant Associated morphology False anomalie du développement Inferred relationship Some 2
    Right superior vena cava connecting to coronary sinus and then to left sided atrium (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Aortic arch centrally descending Associated morphology False anomalie du développement Inferred relationship Some 2
    Cebocephaly Associated morphology False anomalie du développement Inferred relationship Some 2
    Pulmonary artery connecting to coronary artery via collateral artery (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Anomalous insertion of ductus arteriosus into right pulmonary artery (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital anomaly of face bones Associated morphology False anomalie du développement Inferred relationship Some 2
    Parietal encephalocele Associated morphology False anomalie du développement Inferred relationship Some 3
    Jaw congenital deformities Associated morphology False anomalie du développement Inferred relationship Some 2
    Oesophageal atresia, stenosis and fistula Associated morphology False anomalie du développement Inferred relationship Some 2
    Right superior vena cava connecting to coronary sinus (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Atypical ichthyosis vulgaris with hypogonadism Associated morphology False anomalie du développement Inferred relationship Some 2
    Anatomically corrected malposition with concordant ventriculoarterial connections and parallel great arteries (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Right arterial duct Associated morphology False anomalie du développement Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

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    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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