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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 false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Anomalous cardiac muscle bands Associated morphology False Developmental anomaly Inferred relationship Some 2
    Bilateral complete cleft lip and/or alveolus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Solid rudimentary uterus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cleidocranial dysostosis Associated morphology False Developmental anomaly Inferred relationship Some 8
    Cleft leaflet of mitral valve Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ectopic pancreatic tissue in stomach Associated morphology False Developmental anomaly Inferred relationship Some 5
    Cleft hard palate, central Associated morphology False Developmental anomaly Inferred relationship Some 2
    Dentin dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 3
    Central complete cleft palate Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital abnormality of atrioventricular valve papillary muscle in atrioventricular septal defect (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Aortic orifice posterior left with respect to pulmonary orifice (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Polycystic kidney disease, infantile type Associated morphology False Developmental anomaly Inferred relationship Some 3
    Discordant ventriculoarterial connection Associated morphology False Developmental anomaly Inferred relationship Some 2
    Posterior lingual occlusion of mandibular teeth Associated morphology False Developmental anomaly Inferred relationship Some 3
    Double kidney with double pelvis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of palate Associated morphology False Developmental anomaly Inferred relationship Some 2
    Relative generalised microdontia Associated morphology False Developmental anomaly Inferred relationship Some 1
    Double outlet right ventricle with doubly committed ventricular septal defect Associated morphology False Developmental anomaly Inferred relationship Some 2
    Incomplete ossification of presphenoid bone Associated morphology False Developmental anomaly Inferred relationship Some 3
    Cor triloculare biventriculare (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Double outlet right ventricle Associated morphology False Developmental anomaly Inferred relationship Some 2
    Left ventricular outflow tract obstruction due to atrioventricular valve (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of female genital system Associated morphology False Developmental anomaly Inferred relationship Some 2
    Pyelon triplex Associated morphology False Developmental anomaly Inferred relationship Some 2
    Abnormal atrial arrangement (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Indeterminate ventricular outflow tract obstruction Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of liver Associated morphology False Developmental anomaly Inferred relationship Some 2
    Concrescence of teeth Associated morphology False Developmental anomaly Inferred relationship Some 3
    Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism Associated morphology False Developmental anomaly Inferred relationship Some 4
    Ohdo syndrome, Maat-Kievit-Brunner type Associated morphology False Developmental anomaly Inferred relationship Some 2
    Left sided atrium connecting to ventricle of indeterminate morphology Associated morphology False Developmental anomaly Inferred relationship Some 2
    Supernumerary deciduous mandibular tooth Associated morphology False Developmental anomaly Inferred relationship Some 1
    Eisenmenger's complex Associated morphology False Developmental anomaly Inferred relationship Some 2
    Primary endocardial fibroelastosis of right ventricle Associated morphology False Developmental anomaly Inferred relationship Some 2
    Natal tooth Associated morphology False Developmental anomaly Inferred relationship Some 3
    Tetralogy of Fallot with absent pulmonary valve (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 8
    Bilateral posterior lingual occlusion of mandibular teeth (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Accessory tissue on aortic valve cusp Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital vesicoureterorenal reflux (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Abnormal ventriculoarterial connection with usual origin of left coronary artery from aortic sinus to right of nonfacing aortic sinus and usual origin of right coronary artery from aortic sinus to left of nonfacing aortic sinus (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Disto-occlusion of teeth Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital displacement of stomach Associated morphology False Developmental anomaly Inferred relationship Some 2
    Enamel spur Associated morphology False Developmental anomaly Inferred relationship Some 3
    Medullary sponge kidney Associated morphology False Developmental anomaly Inferred relationship Some 3
    Anterior crossbite involving single tooth Associated morphology False Developmental anomaly Inferred relationship Some 3
    Mesotaurodontism Associated morphology False Developmental anomaly Inferred relationship Some 2
    Median palatal cyst Associated morphology False Developmental anomaly Inferred relationship Some 3
    Bilateral incomplete cleft palate with cleft lip Associated morphology False Developmental anomaly Inferred relationship Some 4
    Enamel pearls Associated morphology False Developmental anomaly Inferred relationship Some 2
    Radicular dens invaginatus (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Gemination of teeth (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital cubitus valgus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Class II buccal segment relationship - half unit Associated morphology False Developmental anomaly Inferred relationship Some 4
    Renal dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Imperforate right ventriculoarterial valve Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cyst of female mesonephric duct Associated morphology False Developmental anomaly Inferred relationship Some 4
    Dental arch length loss secondary to loss of permanent teeth Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital uterine anomaly Associated morphology False Developmental anomaly Inferred relationship Some 2
    Double renal pelvis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Double ureter Associated morphology False Developmental anomaly Inferred relationship Some 2
    Dental arch length loss secondary to congenitally missing teeth Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital displacement of punctum lacrimale Associated morphology False Developmental anomaly Inferred relationship Some 3
    Urachal diverticulum Associated morphology False Developmental anomaly Inferred relationship Some 2
    Premature closure of foramen ovale Associated morphology False Developmental anomaly Inferred relationship Some 1
    Uterus subseptus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Triplex ureter Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital abnormality of uterus - baby delivered Associated morphology False Developmental anomaly Inferred relationship Some 2
    Renal agenesis and dysgenesis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital polyp of ureter Associated morphology False Developmental anomaly Inferred relationship Some 2
    Endocardial cushion defect Associated morphology False Developmental anomaly Inferred relationship Some 2
    Left ventricular outflow tract obstruction Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of broad ligament Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lack of ossification of sternebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Dental arch length loss secondary to loss of primary precursors Associated morphology False Developmental anomaly Inferred relationship Some 1
    Ebstein-like malformation of mitral valve (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital uraemia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Anomalous muscle bands of left ventricle Associated morphology False Developmental anomaly Inferred relationship Some 2
    Uniatrial biventricular connection with absent left sided atrioventricular connection with straddling valve (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Common atrioventricular canal Associated morphology False Developmental anomaly Inferred relationship Some 4
    Double uterus affecting pregnancy Associated morphology False Developmental anomaly Inferred relationship Some 2
    Malalignment of aortic sinus in relation to pulmonary sinus (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Medullary cystic disease, otherwise specified Associated morphology False Developmental anomaly Inferred relationship Some 3
    Trifid pelvis of kidney Associated morphology False Developmental anomaly Inferred relationship Some 2
    Fusion of kidneys (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Generalized macrodontia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Amelogenesis imperfecta - hypomaturation - snow capped teeth Associated morphology False Developmental anomaly Inferred relationship Some 3
    Megacalycosis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital hydronephrosis Associated morphology False Developmental anomaly Inferred relationship Some 4
    Persistent fetal uterus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Abnormal atrioventricular connection - univentricular Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital hourglass urinary bladder Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hypotaurodontism (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital anomaly of urethra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Multiple congenital cardiac defects Associated morphology False Developmental anomaly Inferred relationship Some 3
    Right ventricle outflow chamber Associated morphology False Developmental anomaly Inferred relationship Some 2
    Right sided atrium connecting to ventricle of indeterminate morphology Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital hydroureter Associated morphology False Developmental anomaly Inferred relationship Some 2
    Renal pelvis and ureter obstructive defects Associated morphology False Developmental anomaly Inferred relationship Some 2
    Imperforate urinary meatus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Complete transposition of great vessels Associated morphology False Developmental anomaly Inferred relationship Some 4
    A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present. Associated morphology False Developmental anomaly Inferred relationship Some 2

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