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112635002: Congenital malformation (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    183283010 Congenital malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    642068012 Congenital malformation (morphologic abnormality) en Fully specified name 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
    Congenital malformation Is a anomalie congénitale false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Other congenital anomaly of clitoris Associated morphology False Congenital malformation Inferred relationship Some 1
    Percutaneous transluminal ablation of congenital heart malformation Direct morphology False Congenital malformation Inferred relationship Some 1
    Anomalies of pancreas NOS Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital malformation of pancreas Associated morphology False Congenital malformation Inferred relationship Some 1
    Ectopic pancreas Associated morphology False Congenital malformation Inferred relationship Some 2
    Ectopic pancreatic tissue in stomach Associated morphology False Congenital malformation Inferred relationship Some 3
    Congenital malformation of clitoris Associated morphology False Congenital malformation Inferred relationship Some 1
    Annular pancreas Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital vascular malformation of orbit Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital vascular malformation of lip (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Hydatid cyst of Morgagni - female Associated morphology False Congenital malformation Inferred relationship Some 1
    Other specified anomalies of pancreas Associated morphology False Congenital malformation Inferred relationship Some 1
    [X]Other congenital malformations of pancreas and pancreatic duct Associated morphology False Congenital malformation Inferred relationship Some 1
    [X]Congenital malformations of genital organs Associated morphology False Congenital malformation Inferred relationship Some 1
    Miller syndrome Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital midline sinus of philtrum Associated morphology False Congenital malformation Inferred relationship Some 1
    Stickler syndrome Associated morphology False Congenital malformation Inferred relationship Some 2
    Lip pits Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital malformation of sphenoid wing (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Kundrat's syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Duplication of clitoris Associated morphology False Congenital malformation Inferred relationship Some 1
    Patent vitelline duct (disorder) Associated morphology False Congenital malformation Inferred relationship Some 2
    [X]Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate Associated morphology False Congenital malformation Inferred relationship Some 1
    Port-wine stain associated with spinal dysraphism (disorder) Associated morphology False Congenital malformation Inferred relationship Some 2
    [X]Other specified congenital malformations of female genitalia Associated morphology False Congenital malformation Inferred relationship Some 1
    Rehbein procedure Direct morphology False Congenital malformation Inferred relationship Some 1
    Commissural lip pits Associated morphology False Congenital malformation Inferred relationship Some 1
    A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. Associated morphology False Congenital malformation Inferred relationship Some 2
    Perodactylia of lesser toe Associated morphology False Congenital malformation Inferred relationship Some 1
    Capillary malformation Associated morphology False Congenital malformation Inferred relationship Some 1
    Other specified genital organ anomaly Associated morphology False Congenital malformation Inferred relationship Some 1
    [X]Other specified hypospadias Associated morphology False Congenital malformation Inferred relationship Some 1
    Hereditary vascular fragility Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital malformation syndromes involving limbs Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital malformation of anterior abdominal wall Associated morphology False Congenital malformation Inferred relationship Some 1
    Dubowitz's syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Other congenital anomaly of vas deferens or prostate Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital anomaly of lens shape Associated morphology False Congenital malformation Inferred relationship Some 1
    Genital organ absence NEC NOS Associated morphology False Congenital malformation Inferred relationship Some 1
    Hereditary mucoepithelial dysplasia (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    [X]Other specified congenital malformations of male genital organs Associated morphology False Congenital malformation Inferred relationship Some 1
    Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    [X]Other congenital malformations of testis and scrotum Associated morphology False Congenital malformation Inferred relationship Some 1
    Unspecified anomalies of mouth and pharynx Associated morphology False Congenital malformation Inferred relationship Some 1
    Intersex NEC Associated morphology False Congenital malformation Inferred relationship Some 1
    Accessory sternebral ossification site Associated morphology False Congenital malformation Inferred relationship Some 2
    [X]Other congenital malformations of uterus and cervix Associated morphology False Congenital malformation Inferred relationship Some 1
    Isolation of common carotid artery Associated morphology False Congenital malformation Inferred relationship Some 1
    Port-wine stain with associated anomalies (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital abnormality of salivary duct Associated morphology False Congenital malformation Inferred relationship Some 1
    Decompression of imperforate anus Direct morphology False Congenital malformation Inferred relationship Some 1
    Persistence of primitive artery Associated morphology False Congenital malformation Inferred relationship Some 2
    Other specified genital organ anomaly NOS Associated morphology False Congenital malformation Inferred relationship Some 1
    Port-wine stain with oculocutaneous melanosis (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Oral-facial-digital syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Lobar holoprosencephaly Associated morphology False Congenital malformation Inferred relationship Some 1
    Persistent urogenital sinus Associated morphology False Congenital malformation Inferred relationship Some 2
    Cyst of female mesonephric duct Associated morphology False Congenital malformation Inferred relationship Some 2
    Semi-lobar holoprosencephaly Associated morphology False Congenital malformation Inferred relationship Some 1
    Orofacial-digital syndrome IV Associated morphology False Congenital malformation Inferred relationship Some 1
    A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital anomaly of carotid artery Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital malformation of sternum Associated morphology False Congenital malformation Inferred relationship Some 1
    Other mouth and pharynx anomalies NOS Associated morphology False Congenital malformation Inferred relationship Some 1
    Wolffian duct cyst - male Associated morphology False Congenital malformation Inferred relationship Some 2
    kyste causé par un reliquat embryonnaire chez l'homme Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital malformation syndrome involving limbs NOS Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital malformation syndromes with other skeletal changes Associated morphology False Congenital malformation Inferred relationship Some
    Female pseudohermaphroditism Associated morphology False Congenital malformation Inferred relationship Some 2
    Aberrant retro-oesophageal brachiocephalic artery Associated morphology False Congenital malformation Inferred relationship Some 1
    Freemartin Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital aplasia of genital organ NEC NOS Associated morphology False Congenital malformation Inferred relationship Some 1
    Borjeson-Forssman-Lehmann syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Oculodentodigital syndrome Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital malformation syndrome with other skeletal changes NOS Associated morphology False Congenital malformation Inferred relationship Some
    Congenital umbilical defect Associated morphology False Congenital malformation Inferred relationship Some 2
    Other congenital anomalies of sternum Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital malformation syndrome affecting facial appearance NOS Associated morphology False Congenital malformation Inferred relationship Some 1
    De Lange syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    kyste mésonéphrique Associated morphology False Congenital malformation Inferred relationship Some 1
    Exstrophy of urinary bladder NOS Associated morphology False Congenital malformation Inferred relationship Some
    Cyst of mesonephric duct (disorder) Associated morphology False Congenital malformation Inferred relationship Some 2
    Abdominosacroperineal pull-through Direct morphology False Congenital malformation Inferred relationship Some 1
    Hydatid cyst of Morgagni - female Associated morphology False Congenital malformation Inferred relationship Some 1
    Cyst of hydatid of Morgagni Associated morphology False Congenital malformation Inferred relationship Some 1
    Angioma serpiginosum Associated morphology False Congenital malformation Inferred relationship Some 2
    Posterior segment vascular anomalies Associated morphology False Congenital malformation Inferred relationship Some 2
    Hydatid cyst of Morgagni - male Associated morphology False Congenital malformation Inferred relationship Some 2
    Posterior sagittal anorectoplasty Direct morphology False Congenital malformation Inferred relationship Some 2
    Orofacial-digital syndrome III Associated morphology False Congenital malformation Inferred relationship Some 1
    Monster with cranial anomalies Associated morphology False Congenital malformation Inferred relationship Some 1
    Other anomalies of salivary glands or ducts Associated morphology False Congenital malformation Inferred relationship Some 1
    Malformation of tooth (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Specific mixed vascular syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Indeterminate sex or pseudohermaphroditism NOS Associated morphology False Congenital malformation Inferred relationship Some 1
    Atresia of genital organ NEC NOS Associated morphology False Congenital malformation Inferred relationship Some 1
    Cyst of embryonic remnant NEC NOS Associated morphology False Congenital malformation Inferred relationship Some 1
    Byzanthine arch palate Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital vascular malformation of orbit Associated morphology False Congenital malformation Inferred relationship Some 1
    Hanhart's syndrome Associated morphology False Congenital malformation Inferred relationship Some 1

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