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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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Nevus lipomatosus cutaneous superficialis Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of subcutaneous tissue Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hypertrichosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Uterus bicornis unicollis Associated morphology False Congenital anomaly Inferred relationship Some 4
    Craniosynostosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of spleen Associated morphology False Congenital anomaly Inferred relationship Some 1
    3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology False Congenital anomaly Inferred relationship Some 3
    Hepatic methionine adenosyltransferase deficiency Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cowden syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital duplication of cervix Associated morphology False Congenital anomaly Inferred relationship Some 4
    Spina bifida aperta Associated morphology False Congenital anomaly Inferred relationship Some 1
    Reifenstein syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Distal muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of female genital system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cutis laxa, autosomal recessive Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital fusion of sacroiliac joint Associated morphology False Congenital anomaly Inferred relationship Some 3
    Manus plana Associated morphology False Congenital anomaly Inferred relationship Some 2
    Calculus of bile duct with acute cholecystitis without obstruction Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal dominant epidermolysis bullosa simplex Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of stomach Associated morphology False Congenital anomaly Inferred relationship Some 1
    Glycogen storage disease, hepatic form Associated morphology False Congenital anomaly Inferred relationship Some 2
    Calculus of hepatic duct with obstruction Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital esophagotracheal fistula Associated morphology False Congenital anomaly Inferred relationship Some 2
    Epidermolysis bullosa Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ectopic intestinal mucosa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital deformity of knee joint Associated morphology False Congenital anomaly Inferred relationship Some 1
    Jarcho-Levin syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Glycogenosis with glucoaminophosphaturia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Rachischisis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hourglass stomach (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Familial arthrogryposis-cholestatic hepatorenal syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Removal of supernumerary digit Direct morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of vas deferens Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital rectovestibular fistula (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital rectovestibular fistula (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dewebbing of syndactyly of fingers Direct morphology False Congenital anomaly Inferred relationship Some 2
    Larsen syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Brachydactyly syndrome type E Associated morphology False Congenital anomaly Inferred relationship Some 2
    Embryonic fimbrial cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tsuge operation on finger for macrodactyly repair Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of hair Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of vulva Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of vulva Associated morphology False Congenital anomaly Inferred relationship Some 4
    Imperforate hymen Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bayonet hair Associated morphology False Congenital anomaly Inferred relationship Some 1
    Miller syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital fusion of ribs Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hyperplasia of pancreatic islet beta cell Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital absence of toe Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of upper limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Popliteal pterygium syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital duplication of esophagus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pyloric antral atresia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Epidermolysis bullosa simplex Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ectopic pancreas in duodenum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Umbilical hernia with gangrene Associated morphology False Congenital anomaly Inferred relationship Some 7
    Ichthyosis hystrix Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pretibial epidermolysis bullosa Associated morphology False Congenital anomaly Inferred relationship Some 2
    Pili torti-deafness syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of cartilage Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mixed congenital myopathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital myopathy with abnormal subcellular organelles Associated morphology False Congenital anomaly Inferred relationship Some 1
    Calculus of common bile duct with chronic cholecystitis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Calculus of bile duct without obstruction Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hypoplasia of pancreas Associated morphology False Congenital anomaly Inferred relationship Some 1
    Xeroderma pigmentosum, group D Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital keratoderma Associated morphology False Congenital anomaly Inferred relationship Some 2
    Dewebbing of syndactyly of toes Direct morphology False Congenital anomaly Inferred relationship Some 2
    Hereditary benign intraepithelial dyskeratosis Associated morphology False Congenital anomaly Inferred relationship Some
    Rothmund-Thomson syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of fixation of intestine Associated morphology False Congenital anomaly Inferred relationship Some 1
    Calculus of common duct without obstruction Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pancreatic colipase deficiency Associated morphology False Congenital anomaly Inferred relationship Some 1
    Beaded hair Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of digestive system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of esophagus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital occlusion of anus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Erythrokeratodermia variabilis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital cubitus valgus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of penis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Repair of claw toe (procedure) Direct morphology False Congenital anomaly Inferred relationship Some 1
    Occult spinal dysraphism sequence Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital discoid meniscus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Meningomyelocele Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital absence of rib Associated morphology False Congenital anomaly Inferred relationship Some 2
    Omental cyst Associated morphology False Congenital anomaly Inferred relationship Some 2
    Calculus of bile duct with chronic cholecystitis without obstruction Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of broad ligament Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tuberous sclerosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Calculus of common bile duct with acute cholecystitis without obstruction Associated morphology False Congenital anomaly Inferred relationship Some 2
    X-linked ichthyosis with steryl-sulfatase deficiency Associated morphology False Congenital anomaly Inferred relationship Some 1
    Uterus bicornis bicollis Associated morphology False Congenital anomaly Inferred relationship Some 4
    Glycogen storage disease, type I Associated morphology False Congenital anomaly Inferred relationship Some 1
    Megaloappendix Associated morphology False Congenital anomaly Inferred relationship Some 1
    Nevus unius lateris Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital cystic disease of liver Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital absence of germinal epithelium of testes Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of musculoskeletal system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Muscle transfer for claw toe repair Direct morphology False Congenital anomaly Inferred relationship Some 3

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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