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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym Active Case insensitive SNOMED CT core
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure false Inferred relationship Some
    Congenital anomaly Is a Developmental abnormality false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Mesonephric cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Wolffian cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Henck-Assman disease Associated morphology False Congenital anomaly Inferred relationship Some 1
    Uterus cordiformis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of large intestine Associated morphology False Congenital anomaly Inferred relationship Some 1
    Myotubular myopathy with type I atrophy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Calculus of bile duct with chronic cholecystitis with obstruction Associated morphology False Congenital anomaly Inferred relationship Some 1
    Coffin-Lowry syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Facial asymmetry Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital pyloric membrane Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital generalised flexion contractures of lower limb joints Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital absence of pelvis and lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Absent pelvis and lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete congenital absence of thigh AND leg Associated morphology False Congenital anomaly Inferred relationship Some 2
    Paravaginal cyst arising in mesonephric duct Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital absence of leg with foot AND toes Associated morphology False Congenital anomaly Inferred relationship Some 2
    Repair of congenital pseudoarthrosis of tibia Direct morphology False Congenital anomaly Inferred relationship Some 2
    Pili torti Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital diaphragmatic hernia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital subluxation of carpus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Acquired megaduodenum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mohr syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trichorhinophalangeal syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital deformity of sacroiliac joint Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital deformity of sacroiliac joint Associated morphology False Congenital anomaly Inferred relationship Some 3
    Epispadias Associated morphology False Congenital anomaly Inferred relationship Some 3
    H-type congenital tracheo-oesophageal fistula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Schinzel-Giedion syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Ectopic breast tissue Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ovotestis Associated morphology False Congenital anomaly Inferred relationship Some 4
    Holt-Oram syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neurofibromatosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Repair of syndactyly Direct morphology False Congenital anomaly Inferred relationship Some 2
    Congenital syphilitic hepatomegaly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Osteopetrosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Calculus of cystic duct with acute cholecystitis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Occipital dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Porokeratosis of Mibelli, plaque type Associated morphology False Congenital anomaly Inferred relationship Some 1
    Accessory carpal bones Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dominant congenital ichthyosiform erythroderma Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital cubitus varus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of finger Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ambiguous genitalia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Double uterus affecting pregnancy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pili annulati Associated morphology False Congenital anomaly Inferred relationship Some 1
    Uterus bilocularis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Repair of cleft hand Direct morphology False Congenital anomaly Inferred relationship Some 1
    Goltz syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Multiple malformation syndrome with facial-limb defects as major feature Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital pes planus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Metatarsus adductus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital dislocation of shoulder Associated morphology False Congenital anomaly Inferred relationship Some 1
    Imperfect fusion of skull Associated morphology False Congenital anomaly Inferred relationship Some 1
    Distal arthrogryposis syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Mutilating keratoderma Associated morphology False Congenital anomaly Inferred relationship Some 1
    Townes syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Potter's facies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of sternocleidomastoid muscle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lymphopenic agammaglobulinaemia - short-limbed dwarfism syndrome Associated morphology False Congenital anomaly Inferred relationship Some 3
    Coalition of calcaneus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Longitudinal deficiency of phalanges of foot Associated morphology False Congenital anomaly Inferred relationship Some 2
    Longitudinal deficiency of phalanges of foot Associated morphology False Congenital anomaly Inferred relationship Some 3
    Uterus parvicollis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Phytanic acid storage disease Associated morphology False Congenital anomaly Inferred relationship Some 1
    Primordial cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Xeroderma pigmentosum, group C Associated morphology False Congenital anomaly Inferred relationship Some 1
    Repair of macrodactyly Direct morphology False Congenital anomaly Inferred relationship Some 1
    Senter syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Uterus incudiformis Associated morphology False Congenital anomaly Inferred relationship Some 4
    Robinson nail dystrophy-deafness syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cutis marmorata Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dominant dystrophic epidermolysis bullosa with absence of skin Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital deformity of hip joint Associated morphology False Congenital anomaly Inferred relationship Some 1
    Calculus of hepatic duct without obstruction Associated morphology False Congenital anomaly Inferred relationship Some 2
    Acquired epidermolysis bullosa Associated morphology False Congenital anomaly Inferred relationship Some 2
    Pyloric atresia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital deformity of ankle joint Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mesenteric cyst Associated morphology False Congenital anomaly Inferred relationship Some 2
    Inherited arthrogryposis Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of coronary artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Keratosis palmaris et plantaris Associated morphology False Congenital anomaly Inferred relationship Some
    Trigonocephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Weill-Marchesani syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Camptodactyly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Glycogen storage disease, type VI Associated morphology False Congenital anomaly Inferred relationship Some 1
    Craniolacunia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Notomelus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pemberton osteotomy operation of ilium Direct morphology False Congenital anomaly Inferred relationship Some 1
    Longitudinal deficiency of tarsal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital adhesions of peritoneum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Paraumbilical hernia Associated morphology False Congenital anomaly Inferred relationship Some 3
    Porokeratosis of Mibelli, superficial disseminated type Associated morphology False Congenital anomaly Inferred relationship Some 1
    Calculus of bile duct Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital choledochal cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ruvalcaba syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ectodermal dysplasia-ocular malformation syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Bicornuate uterus Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital anomaly of lower alimentary tract Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of face bones Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital fibre type disproportion myopathy Associated morphology False Congenital anomaly Inferred relationship Some

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    Reference Sets

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    Description inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set

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