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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
    2848661000005114 Kongenit malformation da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Kongenit malformation Is a kongenit anomali false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) Associated morphology False Kongenit malformation Inferred relationship Some
    anden clitorisanomali Associated morphology False Kongenit malformation Inferred relationship Some 1
    Percutaneous transluminal ablation of congenital heart malformation Direct morphology False Kongenit malformation Inferred relationship Some 1
    Pancreasanomalier, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital malformation of pancreas Associated morphology False Kongenit malformation Inferred relationship Some 1
    Ectopic pancreas Associated morphology False Kongenit malformation Inferred relationship Some 2
    Ectopic pancreatic tissue in stomach Associated morphology False Kongenit malformation Inferred relationship Some 3
    Congenital malformation of clitoris (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Annular pancreas Associated morphology False Kongenit malformation Inferred relationship Some 1
    kongenit vaskulær misdannelse af orbita Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital vascular malformation of lip (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Hydatid cyst of Morgagni - female Associated morphology False Kongenit malformation Inferred relationship Some 1
    Andre specificerede pancreasanomalier Associated morphology False Kongenit malformation Inferred relationship Some 1
    [X]Other congenital malformations of pancreas and pancreatic duct Associated morphology False Kongenit malformation Inferred relationship Some 1
    [X]Congenital malformations of genital organs Associated morphology False Kongenit malformation Inferred relationship Some 1
    Miller syndrome Associated morphology False Kongenit malformation Inferred relationship Some 2
    Midline sinus of the upper lip Associated morphology False Kongenit malformation Inferred relationship Some 1
    Stickler syndrome Associated morphology False Kongenit malformation Inferred relationship Some 2
    læbefordybninger Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital malformation of sphenoid wing (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Kundrat's syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    Duplication of clitoris Associated morphology False Kongenit malformation Inferred relationship Some 1
    Patent vitelline duct (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 2
    [X]Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate Associated morphology False Kongenit malformation Inferred relationship Some 1
    Port-wine stain associated with spinal dysraphism (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 2
    [X]Other specified congenital malformations of female genitalia Associated morphology False Kongenit malformation Inferred relationship Some 1
    Rehbein procedure Direct morphology False Kongenit malformation Inferred relationship Some 1
    Kommissurale læbefordybninger Associated morphology False Kongenit malformation Inferred relationship Some 1
    A severe form of otopalatodigital syndrome spectrum disorder with characteristics of 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. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected. Associated morphology False Kongenit malformation Inferred relationship Some 2
    Perodactylia of lesser toe Associated morphology False Kongenit malformation Inferred relationship Some 1
    Capillary malformation Associated morphology False Kongenit malformation Inferred relationship Some 1
    anden specificeret kønsorgananomali Associated morphology False Kongenit malformation Inferred relationship Some 1
    [X]Other specified hypospadias Associated morphology False Kongenit malformation Inferred relationship Some 1
    Hereditary vascular fragility Associated morphology False Kongenit malformation Inferred relationship Some 1
    Kongenit misdannelsessyndrom med involvering af ekstremiteter Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital malformation of anterior abdominal wall Associated morphology False Kongenit malformation Inferred relationship Some 1
    Dubowitz's syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    anden kongenit anomali af ductus deferens eller prostata Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital anomaly of lens shape Associated morphology False Kongenit malformation Inferred relationship Some 1
    manglende kønsorgan, ikke klassificeret andetsteds, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some 1
    Hereditary mucoepithelial dysplasia (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    [X]Other specified congenital malformations of male genital organs Associated morphology False Kongenit malformation Inferred relationship Some 1
    Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome (disorder) Associated morphology False Kongenit malformation Inferred relationship Some
    [X]Other congenital malformations of testis and scrotum Associated morphology False Kongenit malformation Inferred relationship Some 1
    uspecificerede mund- og pharynxanomalier Associated morphology False Kongenit malformation Inferred relationship Some 1
    Hermafroditisme, ikke klassificeret andetsteds Associated morphology False Kongenit malformation Inferred relationship Some 1
    Accessory sternebral ossification site Associated morphology False Kongenit malformation Inferred relationship Some 2
    [X]Other congenital malformations of uterus and cervix Associated morphology False Kongenit malformation Inferred relationship Some 1
    Isolation of common carotid artery Associated morphology False Kongenit malformation Inferred relationship Some 1
    Port-wine stain with associated anomalies (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital abnormality of salivary duct (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Decompression of imperforate anus Direct morphology False Kongenit malformation Inferred relationship Some 1
    Persistence of primitive artery Associated morphology False Kongenit malformation Inferred relationship Some 2
    anden specificeret kønsorgananomali, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some 1
    Port-wine stain with oculocutaneous melanosis (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Oral-facial-digital syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    Lobar holoprosencephaly Associated morphology False Kongenit malformation Inferred relationship Some 1
    Persistent urogenital sinus Associated morphology False Kongenit malformation Inferred relationship Some 2
    Wolffian duct cyst - female Associated morphology False Kongenit malformation Inferred relationship Some 2
    Semi-lobar holoprosencephaly Associated morphology False Kongenit malformation Inferred relationship Some 1
    Orofacial-digital syndrome IV Associated morphology False Kongenit malformation Inferred relationship Some 1
    The mildest form of otopalatodigital syndrome spectrum disorder, characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression. Associated morphology False Kongenit malformation Inferred relationship Some 2
    Congenital anomaly of carotid artery Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital malformation of sternum (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    andre mund- og pharynxanomalier, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some 1
    Wolffian duct cyst - male Associated morphology False Kongenit malformation Inferred relationship Some 2
    cyste af embryorest – mand Associated morphology False Kongenit malformation Inferred relationship Some 2
    Kongenit misdannelsessyndrom, der involverer ekstremiteter, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some 1
    Kongenitte malformationssyndromer med andre skeletforandringer Associated morphology False Kongenit malformation Inferred relationship Some
    Female pseudohermaphroditism Associated morphology False Kongenit malformation Inferred relationship Some 2
    Aberrant retro-oesophageal brachiocephalic artery Associated morphology False Kongenit malformation Inferred relationship Some 1
    Tyrekvie Associated morphology False Kongenit malformation Inferred relationship Some 1
    kongenit aplasi af kønsorgan, ikke klassificeret andetsteds, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some 1
    Borjeson-Forssman-Lehmann syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    Oculodentodigital syndrome Associated morphology False Kongenit malformation Inferred relationship Some 2
    Kongenit misdannelsessyndrom med andre skeletforandringer, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some
    Congenital umbilical defect Associated morphology False Kongenit malformation Inferred relationship Some 2
    Andre kongenitte anomalier i sternum Associated morphology False Kongenit malformation Inferred relationship Some 1
    Kongenit misdannelsessyndrom, der afficerer ansigtsudseendet, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some 1
    De Lange syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    Mesonephric cyst Associated morphology False Kongenit malformation Inferred relationship Some 1
    blæreekstrofi, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some
    Cyst of Wolffian duct Associated morphology False Kongenit malformation Inferred relationship Some 2
    Abdominosacroperineal pull-through Direct morphology False Kongenit malformation Inferred relationship Some 1
    Hydatid cyst of Morgagni - female Associated morphology False Kongenit malformation Inferred relationship Some 1
    Cyst of hydatid of Morgagni Associated morphology False Kongenit malformation Inferred relationship Some 1
    Angioma serpiginosum Associated morphology False Kongenit malformation Inferred relationship Some 2
    Vaskulære anomalier af det posteriore segment Associated morphology False Kongenit malformation Inferred relationship Some 2
    Hydatid cyst of Morgagni - male Associated morphology False Kongenit malformation Inferred relationship Some 2
    Posterior sagittal anorectoplasty Direct morphology False Kongenit malformation Inferred relationship Some 2
    Orofacial-digital syndrome III Associated morphology False Kongenit malformation Inferred relationship Some 1
    Misfoster med kranieanomalier Associated morphology False Kongenit malformation Inferred relationship Some 1
    Andre kongenitte anomalier af spytkirtler og udførselsgange Associated morphology False Kongenit malformation Inferred relationship Some 1
    Malformation of tooth (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Specific mixed vascular syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    ubestemmeligt køn eller pseudohermafroditisme, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some 1
    atresi af kønsorgan, ikke klassificeret andetsteds, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some 1
    cyste af embryorest, ikke klassificeret andetsteds, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some 1
    Byzanthine arch palate Associated morphology False Kongenit malformation Inferred relationship Some 2
    kongenit vaskulær misdannelse af orbita Associated morphology False Kongenit malformation Inferred relationship Some 1
    Hanhart's syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1

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