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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
    Annular pancreas Associated morphology False kongenit anomali Inferred relationship Some 1
    Incontinentia pigmenti syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Mongolian spot Associated morphology False kongenit anomali Inferred relationship Some
    Supernumerary tooth (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit manglende underarm med hånd OG fingre Associated morphology False kongenit anomali Inferred relationship Some 1
    Pseudokryptorkisme Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital hepatomegaly Associated morphology False kongenit anomali Inferred relationship Some 2
    Nevus anemicus Associated morphology False kongenit anomali Inferred relationship Some
    Langer-Giedion syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital abnormality of uterus, affecting pregnancy Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital esophagobronchial fistula Associated morphology False kongenit anomali Inferred relationship Some 1
    Macrodactyly of toe (disorder) Associated morphology False kongenit anomali Inferred relationship Some 3
    Uterus acollis Associated morphology False kongenit anomali Inferred relationship Some 1
    Disseminated superficial actinic porokeratosis Associated morphology False kongenit anomali Inferred relationship Some 2
    Glycogen storage disease type VIII Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of genital organ Associated morphology False kongenit anomali Inferred relationship Some 1
    Paraumbilical hernia with gangrene AND obstruction Associated morphology False kongenit anomali Inferred relationship Some 9
    Congenital varus deformity of foot Associated morphology False kongenit anomali Inferred relationship Some 3
    Cochleate uterus Associated morphology False kongenit anomali Inferred relationship Some 1
    Eruption cyst of jaw Associated morphology False kongenit anomali Inferred relationship Some 2
    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 anomali Inferred relationship Some 3
    Xeroderma pigmentosum, group F Associated morphology False kongenit anomali Inferred relationship Some 1
    Islet cell hyperplasia Associated morphology False kongenit anomali Inferred relationship Some 1
    An inherited neuromuscular disorder with characteristics of central cores on muscle biopsy and clinical features of a congenital myopathy. Typical presentation is in infancy with hypotonia and motor developmental delay and predominantly proximal weakness pronounced in the hip girdle. Caused by (predominantly dominant) mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes in the RyR protein are considered to be the main pathogenetic mechanism(s). Associated morphology False kongenit anomali Inferred relationship Some 2
    Sarcotubular myopathy Associated morphology False kongenit anomali Inferred relationship Some 1
    Modified Johanson operation for claw toe with arthrodesis Direct morphology False kongenit anomali Inferred relationship Some 1
    Progredierende recessiv dystrofisk bulløs epidermolyse Associated morphology False kongenit anomali Inferred relationship Some 1
    Brachydactyly Associated morphology False kongenit anomali Inferred relationship Some 2
    Xeroderma pigmentosum, group A Associated morphology False kongenit anomali Inferred relationship Some 1
    Calculus of bile duct with acute cholecystitis with obstruction Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of male genital system Associated morphology False kongenit anomali Inferred relationship Some 1
    Cholesterol monooxygenase (side-chain cleaving) deficiency Associated morphology False kongenit anomali Inferred relationship Some 2
    Dubin-Johnson syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Xeroderma pigmentosum Associated morphology False kongenit anomali Inferred relationship Some 1
    keratoderma punctatum Associated morphology False kongenit anomali Inferred relationship Some 1
    Moynahans syndrom Associated morphology False kongenit anomali Inferred relationship Some
    Congenital cardiospasm Associated morphology False kongenit anomali Inferred relationship Some 1
    Ruvalcaba-Myhres syndrom Associated morphology False kongenit anomali Inferred relationship Some 1
    Reconstruction of toe for macrodactyly with bone resection Direct morphology False kongenit anomali Inferred relationship Some 2
    Calculus of bile duct with obstruction Associated morphology False kongenit anomali Inferred relationship Some 2
    Von Hippel-Lindau syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Female infertility due to structural congenital anomaly of vagina Associated morphology False kongenit anomali Inferred relationship Some 1
    Severe X-linked myotubular myopathy (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenit anomali i pancreas Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital duplication of gallbladder Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital hiatus hernia Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital anomaly of bile ducts Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital leukonychia Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenit forkortet ben Associated morphology False kongenit anomali Inferred relationship Some 1
    Naso-palatine duct cyst Associated morphology False kongenit anomali Inferred relationship Some 1
    Acrocephaly Associated morphology False kongenit anomali Inferred relationship Some 1
    Meckel's diverticulitis Associated morphology False kongenit anomali Inferred relationship Some 1
    Closure of cleft hand (procedure) Direct morphology False kongenit anomali Inferred relationship Some 2
    Metatarsus varus Associated morphology False kongenit anomali Inferred relationship Some 1
    Recessive dystrophic epidermolysis bullosa Associated morphology False kongenit anomali Inferred relationship Some 1
    Nevus of Ito Associated morphology False kongenit anomali Inferred relationship Some
    Darier disease Associated morphology False kongenit anomali Inferred relationship Some 2
    17 alpha-Hydroxyprogesterone aldolase deficiency Associated morphology False kongenit anomali Inferred relationship Some 3
    Umbilical hernia Associated morphology False kongenit anomali Inferred relationship Some 3
    Angioma serpiginosum Associated morphology False kongenit anomali Inferred relationship Some
    Congenital anomaly of gallbladder Associated morphology False kongenit anomali Inferred relationship Some 1
    Calculus of common bile duct Associated morphology False kongenit anomali Inferred relationship Some 1
    FG syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital organoaxial volvulus of stomach Associated morphology False kongenit anomali Inferred relationship Some 1
    Removal of supernumerary toe Direct morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of skull Associated morphology False kongenit anomali Inferred relationship Some 1
    Akabane virus disease Associated morphology False kongenit anomali Inferred relationship Some
    Universal mesentery (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Linear sebaceous nevus sequence Associated morphology False kongenit anomali Inferred relationship Some
    Fetal disproportion due to fetal myelomeningocele Associated morphology False kongenit anomali Inferred relationship Some 1
    Oral-facial-digital syndrome Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital anomaly of vagina Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital gastric perforation Associated morphology False kongenit anomali Inferred relationship Some 1
    Vascular compression of esophagus by aberrant artery Associated morphology False kongenit anomali Inferred relationship Some 3
    Brunner's gland adenoma Associated morphology False kongenit anomali Inferred relationship Some 2
    Peutz-Jeghers polyps of small bowel Associated morphology False kongenit anomali Inferred relationship Some 4
    Uterus subseptus Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital junctional epidermolysis bullosa-pyloric atresia syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Pigmented hairy epidermal nevus Associated morphology False kongenit anomali Inferred relationship Some
    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 anomali Inferred relationship Some 3
    Hidrotic ectodermal dysplasia syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Ichthyosis linearis circumflexa Associated morphology False kongenit anomali Inferred relationship Some 1
    Peutz-Jeghers syndrome Associated morphology False kongenit anomali Inferred relationship Some 3
    Pancreas divisum Associated morphology False kongenit anomali Inferred relationship Some 1
    Uterus biforis Associated morphology False kongenit anomali Inferred relationship Some 1
    Straight back syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital muscular hypertrophy-cerebral syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    Multi-core congenital myopathy Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of small intestine Associated morphology False kongenit anomali Inferred relationship Some 1
    Reconstruction of cleft foot Direct morphology False kongenit anomali Inferred relationship Some 2
    Vascular compression of esophagus by aberrant right subclavian artery arising from descending aorta Associated morphology False kongenit anomali Inferred relationship Some 3
    Anomalous origin of left circumflex artery from right coronary artery Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of testis Associated morphology False kongenit anomali Inferred relationship Some 1
    Hay-Wells syndrome of ectodermal dysplasia Associated morphology False kongenit anomali Inferred relationship Some 3
    Complete phocomelia of lower limb Associated morphology False kongenit anomali Inferred relationship Some 1
    Xeroderma pigmentosum, group E Associated morphology False kongenit anomali Inferred relationship Some 1
    Facioscapulohumeral muscular dystrophy Associated morphology False kongenit anomali Inferred relationship Some
    Leydig cell agenesis Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit forkortet af arm Associated morphology False kongenit anomali Inferred relationship Some 1
    Fibrous hamartoma of infancy Associated morphology False kongenit anomali Inferred relationship Some
    Nevus lipomatosus cutaneous superficialis Associated morphology False kongenit anomali Inferred relationship Some

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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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