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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
    X-linked muscular dystrophy with abnormal dystrophin Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of metacarpal bone Associated morphology False Developmental anomaly Inferred relationship Some 2
    Dumbbell-shaped cartilaginous centrum of lumbar vertebra Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital bronchopulmonary foregut malformation Associated morphology False Developmental anomaly Inferred relationship Some 3
    Preauricular sinus, pit or fistula Associated morphology False Developmental anomaly Inferred relationship Some 2
    Preauricular sinus, pit or fistula Associated morphology False Developmental anomaly Inferred relationship Some 3
    Preauricular sinus, pit or fistula Associated morphology False Developmental anomaly Inferred relationship Some 4
    Dumbbell-shaped cartilaginous centrum of sacral vertebra Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of blood vessel of lower limb Associated morphology False Developmental anomaly Inferred relationship Some 1
    Pulmonary tuberous sclerosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital diverticulum of lacrimal canaliculus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Craniometaphyseal dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 4
    Hitch-hiker thumb Associated morphology False Developmental anomaly Inferred relationship Some 2
    Corneal size and shape anomalies Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital sutural cataract Associated morphology False Developmental anomaly Inferred relationship Some 1
    Neurofibromatosis syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital ectopia (morphologic abnormality) Is a False Developmental anomaly Inferred relationship Some
    Dubowitz's syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Myopathy with tubular aggregates Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital fusion of ribs Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital thickening of femur Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hydrencephalomeningocele Associated morphology False Developmental anomaly Inferred relationship Some 3
    Autosomal recessive muscular dystrophy not predominantly limb girdle Associated morphology False Developmental anomaly Inferred relationship Some 3
    Vertical orbital dystopia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Thumb in palm deformity Associated morphology False Developmental anomaly Inferred relationship Some 2
    Embryonic cyst of ovary Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital keratoconus posticus circumscriptus Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital malposition of thymus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Benign scapuloperoneal muscular dystrophy with cardiomyopathy Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of tongue Associated morphology False Developmental anomaly Inferred relationship Some 2
    Craniometaphyseal dysplasia - mild type Associated morphology False Developmental anomaly Inferred relationship Some 4
    Thoracolumbar spina bifida without hydrocephalus - closed Associated morphology False Developmental anomaly Inferred relationship Some 3
    Thoracolumbar spina bifida without hydrocephalus - closed Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital combined form cataract Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital vascular anomaly of eyelid (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital vascular anomaly of upper eyelid Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital blepharophimosis of upper eyelid Associated morphology False Developmental anomaly Inferred relationship Some 5
    Nonsyndromic premature fusion of multiple sutures. Associated morphology False Developmental anomaly Inferred relationship Some 4
    Nonsyndromic premature fusion of a single suture. Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital anomaly of vulva in mother complicating pregnancy (disorder) 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 4
    Hand-foot-genital syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital cataracts, facial dysmorphism and neuropathy Associated morphology False Developmental anomaly Inferred relationship Some 3
    Relative generalised macrodontia Associated morphology False Developmental anomaly Inferred relationship Some 1
    Paravaginal cyst arising in mesonephric duct Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hutchinson's teeth Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital diverticulum of stomach Associated morphology False Developmental anomaly Inferred relationship Some 2
    Embryonic cyst of fallopian tube and broad ligament Associated morphology False Developmental anomaly Inferred relationship Some 2
    Embryonic cyst of fallopian tube and broad ligament Associated morphology False Developmental anomaly Inferred relationship Some 3
    Foramen ovale valvar aneurysm Associated morphology False Developmental anomaly Inferred relationship Some 3
    Ectopic ureterocele Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of tongue, salivary gland AND/OR pharynx Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital tracheobronchomegaly Associated morphology False Developmental anomaly Inferred relationship Some 4
    Straddling tricuspid valve Associated morphology False Developmental anomaly Inferred relationship Some 2
    Dentinogenesis imperfecta - Shield's type II Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of ureter Associated morphology False Developmental anomaly Inferred relationship Some 2
    Incomplete ossification of sternebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Posteromedial muscle band Associated morphology False Developmental anomaly Inferred relationship Some 2
    Fatal congenital nonlysosomal heart glycogenosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Univentricular atrioventricular connection with absent left sided atrioventricular connection (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice) (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Double aortic valve Associated morphology False Developmental anomaly Inferred relationship Some 2
    Single ventricular outlet above left ventricle (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hyperplastic tooth follicle Associated morphology False Developmental anomaly Inferred relationship Some 4
    Fibrocystic kidney disease Associated morphology False Developmental anomaly Inferred relationship Some 3
    Amelogenesis imperfecta, hypomaturation type Associated morphology False Developmental anomaly Inferred relationship Some 3
    Buccal crossbite Associated morphology False Developmental anomaly Inferred relationship Some 3
    Imperforate vagina Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lethal glossopharyngeal defect Associated morphology False Developmental anomaly Inferred relationship Some 2
    Left ventricular outflow tract obstruction due to fibromuscular tunnel (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Cake kidney Associated morphology False Developmental anomaly Inferred relationship Some 2
    Right ventricular outflow tract obstruction due to prolapse of Eustachian valve (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Lateral openbite - right Associated morphology False Developmental anomaly Inferred relationship Some 5
    Anomalous valve of coronary sinus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Abnormal relationship of aortic orifice to pulmonary orifice Associated morphology False Developmental anomaly Inferred relationship Some 2
    A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested. Associated morphology False Developmental anomaly Inferred relationship Some 5
    Dentin dysplasia, type II Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital cyst of urinary bladder Associated morphology False Developmental anomaly Inferred relationship Some 2
    Palatal cyst of newborn (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Single vessel of umbilical cord Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital abnormality of liver and/or biliary tract (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Tubule of paroophoron Associated morphology False Developmental anomaly Inferred relationship Some 1
    Left sided atrium connecting to right ventricle Associated morphology False Developmental anomaly Inferred relationship Some 2
    Mesonephric duct cyst of broad ligament Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital cleft of cardiac valve Associated morphology False Developmental anomaly Inferred relationship Some 2
    Right ventricular outflow tract abnormality Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ebstein's anomaly with atrial septal defect Associated morphology False Developmental anomaly Inferred relationship Some 3
    Reverse posterior crossbite Associated morphology False Developmental anomaly Inferred relationship Some 3
    Turner's tooth Associated morphology False Developmental anomaly Inferred relationship Some 2
    Paired teeth microdontia (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cor triloculare Associated morphology False Developmental anomaly Inferred relationship Some 3
    Spinal dysgenesis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital convoluted ureter Associated morphology False Developmental anomaly Inferred relationship Some 2
    Univentricular atrioventricular connection with absent right sided atrioventricular connection (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Maxillary prognathism Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital heart disease, septal and bulbar anomalies Associated morphology False Developmental anomaly Inferred relationship Some 2
    Double kidney AND/OR pelvis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Tetralogy of Fallot with pulmonary stenosis Associated morphology False Developmental anomaly Inferred relationship Some 7
    Lateral openbite Associated morphology False Developmental anomaly Inferred relationship Some 5
    Congenital heart disease Associated morphology False Developmental anomaly Inferred relationship Some 2
    Uterus cordiformis Associated morphology False Developmental anomaly Inferred relationship Some 2

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