FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
    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
    Left sided atrium connecting to both ventricles Associated morphology False Developmental anomaly Inferred relationship Some 2
    Absent atrioventricular connection with straddling valve Associated morphology False Developmental anomaly Inferred relationship Some 2
    Anterolateral muscle band Associated morphology False Developmental anomaly Inferred relationship Some 2
    Acardiacus anceps Associated morphology False Developmental anomaly Inferred relationship Some 2
    Submucous cleft of hard palate Associated morphology False Developmental anomaly Inferred relationship Some 2
    Saldino-Mainzer dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 4
    Ventricular septal defect in Fallot's tetralogy Associated morphology False Developmental anomaly Inferred relationship Some 7
    Protrusion of tooth (finding) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital misalignment of palate rugae Associated morphology False Developmental anomaly Inferred relationship Some 2
    Central incomplete cleft palate Associated morphology False Developmental anomaly Inferred relationship Some 2
    Microcystic renal disease Associated morphology False Developmental anomaly Inferred relationship Some 3
    Supernumerary deciduous tooth Associated morphology False Developmental anomaly Inferred relationship Some 2
    Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Bicornuate uterus complicating antenatal care, baby not yet delivered Associated morphology False Developmental anomaly Inferred relationship Some 2
    Nodular renal blastema Associated morphology False Developmental anomaly Inferred relationship Some 2
    Left ventricular outflow tract abnormality Associated morphology False Developmental anomaly Inferred relationship Some 2
    Overriding mitral valve Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ebstein's anomaly of tricuspid valve with atrialization of right ventricular chamber (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital stenosis of neck of urinary bladder Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ectopia cordis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of fallopian tubes Associated morphology False Developmental anomaly Inferred relationship Some 2
    Right ventricular outflow obstruction - localized Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital abnormality of uterus - baby delivered with postpartum complication Associated morphology False Developmental anomaly Inferred relationship Some 2
    Central cleft lip Associated morphology False Developmental anomaly Inferred relationship Some 3
    Aortic orifice right side by side with respect to pulmonary orifice (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Bilateral renal dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 3
    Mitral leaflet dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 3
    Lack of ossification of basisphenoid bone Associated morphology False Developmental anomaly Inferred relationship Some 3
    Abnormal relationship of right ventricle to left ventricle Associated morphology False Developmental anomaly Inferred relationship Some 2
    Uhl's disease Associated morphology False Developmental anomaly Inferred relationship Some 3
    Ebstein's anomaly of right atrioventricular valve in functionally univentricular heart (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cor triatriatum Associated morphology False Developmental anomaly Inferred relationship Some 2
    Dumbbell-shaped cartilaginous centrum of lumbar vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital abnormality of uterus complicating postpartum care - baby delivered during previous episode of care Associated morphology False Developmental anomaly Inferred relationship Some 2
    Dumbbell-shaped cartilaginous centrum of sacral vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Complete bilateral cleft lip Associated morphology False Developmental anomaly Inferred relationship Some 3
    Bipartite ossification of sternebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ambiguous atrioventricular connection Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital diverticulum of lacrimal canaliculus Associated morphology False Developmental anomaly Inferred relationship Some 3
    Lower moiety ureter of duplex kidney Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of stomach Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital obstructive defect of renal pelvis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Imperforate ventriculoarterial valve Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cleft hard and soft palate Associated morphology False Developmental anomaly Inferred relationship Some 2
    Horseshoe kidney Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital microgastria Associated morphology False Developmental anomaly Inferred relationship Some 2
    Right ventricular outflow tract obstruction due to septoparietal trabeculation (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital superior sulcus anomaly of orbit Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital vascular anomaly of lower eyelid Associated morphology False Developmental anomaly Inferred relationship Some 3
    Early onset myopathy with fatal cardiomyopathy (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Inclusion body myopathy 2 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Distal myopathy 2 Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of vagina in mother complicating pregnancy Associated morphology False Developmental anomaly Inferred relationship Some 1
    Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Hand-foot-genital syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital cataracts, facial dysmorphism and neuropathy Associated morphology False Developmental anomaly Inferred relationship Some 2
    Condition where the ulna projects more distally relative to the radius. Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital female urogenital anomaly (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hypoplasia Is a False Developmental anomaly Inferred relationship Some
    Congenital hydrosalpinx Associated morphology False Developmental anomaly Inferred relationship Some 3
    Hypoplastic chondrodystrophy Associated morphology False Developmental anomaly Inferred relationship Some 4
    Retinal cirsoid aneurysm Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital abnormality of right atrioventricular valve papillary muscle in double inlet ventricle (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Klippel-Feil sequence Associated morphology False Developmental anomaly Inferred relationship Some 6
    Bifid scrotum Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital abnormality of tricuspid leaflet (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Spheno-frontal dysostosis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital abnormality of pulmonary valve cusp (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Left ventricular outflow tract obstruction due to neoplasm Associated morphology False Developmental anomaly Inferred relationship Some 1
    Epoophoron cyst Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital abnormality of thoracic aorta and pulmonary arteries Associated morphology False Developmental anomaly Inferred relationship Some 4
    Abnormal attachment of tricuspid chordae tendinae (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of male urogenital tract (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Left ventricular outflow tract obstruction due to prolapse of Eustachian valve (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Solitary arterial trunk Associated morphology False Developmental anomaly Inferred relationship Some 4
    Aortic root congenital abnormality Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital epicardial cyst Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of bone and joint Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital abnormality of mitral subvalvular apparatus (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Displacement of Wharton's duct Associated morphology False Developmental anomaly Inferred relationship Some 5
    Congenital abnormality of atrial septum (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital abnormality of cardiac vein (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of tympanic anulus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital abnormality of tricuspid papillary muscle (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Splenoportal vascular anomaly Associated morphology False Developmental anomaly Inferred relationship Some 3
    Hyperplastic chondrodystrophy Associated morphology False Developmental anomaly Inferred relationship Some 4
    Laminar heterotopia Associated morphology False Developmental anomaly Inferred relationship Some 3
    Van der Woude syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital anomaly of renal blood vessel (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Known OR suspected fetal anencephaly affecting obstetrical care Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital abnormality of tricuspid chordae tendinae (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Persistent dorsal mesentery Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital abnormality of right atrioventricular valve leaflet in double inlet ventricle (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Double eyebrow Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital abnormality of anterior cardiac vein (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital laryngeal stridor Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital abnormality of posterior cardiac vein of left ventricle (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Paratubal cyst arising in mesonephric duct Associated morphology False Developmental anomaly Inferred relationship Some 3
    Ulnar dimelia Associated morphology False Developmental anomaly Inferred relationship Some 4
    Synophrys Associated morphology False Developmental anomaly Inferred relationship Some 4

    Start Previous Page 49 of 73 Next End

    Reference Sets

    Concept inactivation indicator reference set

    GB English

    US English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    Back to Start