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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    2848101000005119 kongenit anomali 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 anomali Is a Morphologically abnormal structure false Inferred relationship Some
    kongenit anomali Is a dysgenese false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital rectocloacal fistula Associated morphology False kongenit anomali Inferred relationship Some 1
    umbilikalhernie med obstruktion, men uden gangræn Associated morphology False kongenit anomali Inferred relationship Some 3
    Persistent fetal uterus Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit ledstivhed med myopati Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of scapula Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of humerus Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of radius Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of ulna Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of femur Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of fibula (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of tibia Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of calcaneus Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of tarsal bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of metatarsal bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of carpal bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of metacarpal bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of rib (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenit anomali af ydre kvindelige kønsorganer Associated morphology False kongenit anomali Inferred relationship Some 1
    Mesonephric duct cyst Associated morphology False kongenit anomali Inferred relationship Some 3
    Rudimentary uterus in male Associated morphology False kongenit anomali Inferred relationship Some 2
    Heyman operation Direct morphology False kongenit anomali Inferred relationship Some 1
    Brockman operation Direct morphology False kongenit anomali Inferred relationship Some 1
    longitudinel ameli af metatarsalknogle Associated morphology False kongenit anomali Inferred relationship Some 1
    Talocalcaneal coalition Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of perineum Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of intestinal tract Associated morphology False kongenit anomali Inferred relationship Some 1
    Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Associated morphology False kongenit anomali Inferred relationship Some 3
    Excision of aberrant renal artery Direct morphology False kongenit anomali Inferred relationship Some
    Longitudinal deficiency of foot Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of maxilla (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Open reduction of congenital dislocation of hip Direct morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of digestive organ Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of duodenum Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of peritoneum Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of gastrointestinal tract (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of talus Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital coronary artery fistula to left atrium Associated morphology False kongenit anomali Inferred relationship Some 4
    Congenital coronary artery fistula to left ventricle Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital coronary artery fistula to right atrium Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital coronary artery fistula to right ventricle Associated morphology False kongenit anomali Inferred relationship Some 1
    Calculus of common bile duct with chronic cholecystitis with obstruction Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital ichthyosis of skin Associated morphology False kongenit anomali Inferred relationship Some 1
    Hypospadias Associated morphology False kongenit anomali Inferred relationship Some 2
    Synechia vulvae Associated morphology False kongenit anomali Inferred relationship Some 3
    Synechia vulvae Associated morphology False kongenit anomali Inferred relationship Some 4
    Fistula of lip Associated morphology False kongenit anomali Inferred relationship Some 1
    Calculus of common duct with obstruction Associated morphology False kongenit anomali Inferred relationship Some 1
    Brachycephaly Associated morphology False kongenit anomali Inferred relationship Some 2
    Uterus unicornis Associated morphology False kongenit anomali Inferred relationship Some 4
    Pigmenteret xeroderma Associated morphology False kongenit anomali Inferred relationship Some 1
    Doubling of uterus with doubling of cervix and vagina Associated morphology False kongenit anomali Inferred relationship Some 1
    Dysplastic ovary Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital ovarian dysplasia Associated morphology False kongenit anomali Inferred relationship Some 2
    Aganglionosis of Auerbach's plexus Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit megacolon Associated morphology False kongenit anomali Inferred relationship Some 1
    Aganglionosis of colon Associated morphology False kongenit anomali Inferred relationship Some 1
    Mesonephric cyst Associated morphology False kongenit anomali Inferred relationship Some 1
    Wolffian cyst Associated morphology False kongenit anomali Inferred relationship Some 1
    Henck-Assmans sygdom Associated morphology False kongenit anomali Inferred relationship Some 1
    Uterus cordiformis Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of large intestine Associated morphology False kongenit anomali Inferred relationship Some 1
    Myotubular myopathy with type I atrophy Associated morphology False kongenit anomali Inferred relationship Some 1
    Calculus of bile duct with chronic cholecystitis with obstruction Associated morphology False kongenit anomali Inferred relationship Some 1
    A rare X-linked syndromic intellectual disability with characteristics of global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognized as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes. Associated morphology False kongenit anomali Inferred relationship Some 1
    Facial asymmetry Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital pyloric membrane Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital generalized flexion contractures of lower limb joints Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital absence of pelvis and lower limb Associated morphology False kongenit anomali Inferred relationship Some 1
    Manglende pelvis og underekstremitet Associated morphology False kongenit anomali Inferred relationship Some 1
    Incomplete congenital absence of thigh AND leg Associated morphology False kongenit anomali Inferred relationship Some 2
    Paravaginal cyst arising in mesonephric duct Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit manglende ben inklusive fod OG tæer Associated morphology False kongenit anomali Inferred relationship Some 2
    Repair of congenital pseudoarthrosis of tibia Direct morphology False kongenit anomali Inferred relationship Some 2
    Pili torti (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital diaphragmatic hernia Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital subluxation of carpus Associated morphology False kongenit anomali Inferred relationship Some 2
    Acquired megaduodenum Associated morphology False kongenit anomali Inferred relationship Some 1
    Mohr syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Trichorhinophalangeal syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital deformity of sacroiliac joint Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital deformity of sacroiliac joint Associated morphology False kongenit anomali Inferred relationship Some 3
    Epispadias Associated morphology False kongenit anomali Inferred relationship Some 3
    H-type congenital tracheoesophageal fistula Associated morphology False kongenit anomali Inferred relationship Some 1
    Schinzel-Giedion syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Ectopic breast tissue Associated morphology False kongenit anomali Inferred relationship Some 1
    Ovotestis Associated morphology False kongenit anomali Inferred relationship Some 4
    Holt-Oram syndrome is the most common form of heart-hand syndrome with characteristics of skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. The clinical picture of covers a wide spectrum of upper extremity defects, always including the radial ray, and cardiac defects. Caused by a mutation in the TBX5 gene located on the long arm of chromosome 12 (12q24.1). Associated morphology False kongenit anomali Inferred relationship Some 1
    Neurofibromatosis syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Repair of syndactyly Direct morphology False kongenit anomali Inferred relationship Some 2
    Congenital syphilitic hepatomegaly Associated morphology False kongenit anomali Inferred relationship Some 2
    Osteopetrosis Associated morphology False kongenit anomali Inferred relationship Some 1
    Calculus of cystic duct with acute cholecystitis Associated morphology False kongenit anomali Inferred relationship Some 1
    Occipital dysplasia (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Mibellis porokeratose, plaquetype Associated morphology False kongenit anomali Inferred relationship Some 1
    Accessory carpal bones Associated morphology False kongenit anomali Inferred relationship Some 1
    Dominant congenital ichthyosiform erythroderma Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital cubitus varus Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of finger Associated morphology False kongenit anomali Inferred relationship Some 1
    Ambiguous genitalia Associated morphology False kongenit anomali Inferred relationship Some 1
    Double uterus affecting pregnancy Associated morphology False kongenit anomali Inferred relationship Some 1
    Pili annulati Associated morphology False kongenit anomali Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    REFERS TO concept association reference set

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