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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 false Inferred relationship Some
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Annular pancreas Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incontinentia pigmenti syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mongolian spot Associated morphology False Congenital anomaly Inferred relationship Some
    Supernumerary tooth (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital absence of forearm with hand AND fingers Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pseudocryptorchism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hepatomegaly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Nevus anemicus Associated morphology False Congenital anomaly Inferred relationship Some
    Langer-Giedion syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormality of uterus, affecting pregnancy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital esophagobronchial fistula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Macrodactyly of toe (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Uterus acollis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Disseminated superficial actinic porokeratosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Glycogen storage disease type VIII Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of genital organ Associated morphology False Congenital anomaly Inferred relationship Some 1
    Paraumbilical hernia with gangrene AND obstruction Associated morphology False Congenital anomaly Inferred relationship Some 9
    Congenital varus deformity of foot Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cochleate uterus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Eruption cyst of jaw Associated morphology False Congenital anomaly Inferred relationship Some 2
    A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by 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. Associated morphology False Congenital anomaly Inferred relationship Some 3
    Xeroderma pigmentosum, group F Associated morphology False Congenital anomaly Inferred relationship Some 1
    Islet cell hyperplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. Associated morphology False Congenital anomaly Inferred relationship Some 2
    Sarcotubular myopathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Modified Johanson operation for claw toe with arthrodesis Direct morphology False Congenital anomaly Inferred relationship Some 1
    Progressive recessive dystrophic epidermolysis bullosa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Brachydactyly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Xeroderma pigmentosum, group A Associated morphology False Congenital anomaly Inferred relationship Some 1
    Calculus of bile duct with acute cholecystitis with obstruction Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of male genital system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cholesterol monooxygenase (side-chain cleaving) deficiency Associated morphology False Congenital anomaly Inferred relationship Some 2
    Dubin-Johnson syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Xeroderma pigmentosum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Keratoderma punctata Associated morphology False Congenital anomaly Inferred relationship Some 1
    Moynahan's syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital cardiospasm Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ruvalcaba-Myhre syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Reconstruction of toe for macrodactyly with bone resection Direct morphology False Congenital anomaly Inferred relationship Some 2
    Calculus of bile duct with obstruction Associated morphology False Congenital anomaly Inferred relationship Some 2
    Von Hippel-Lindau syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Female infertility due to structural congenital anomaly of vagina Associated morphology False Congenital anomaly Inferred relationship Some 1
    Severe X-linked myotubular myopathy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of pancreas Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital duplication of gallbladder Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hiatus hernia Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital anomaly of bile ducts Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital leukonychia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital shortening of leg Associated morphology False Congenital anomaly Inferred relationship Some 1
    Naso-palatine duct cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acrocephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Meckel's diverticulitis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Closure of cleft hand Direct morphology False Congenital anomaly Inferred relationship Some 2
    Metatarsus varus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Recessive dystrophic epidermolysis bullosa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Nevus of Ito Associated morphology False Congenital anomaly Inferred relationship Some
    Darier disease Associated morphology False Congenital anomaly Inferred relationship Some 2
    17 alpha-Hydroxyprogesterone aldolase deficiency Associated morphology False Congenital anomaly Inferred relationship Some 3
    Umbilical hernia Associated morphology False Congenital anomaly Inferred relationship Some 3
    Angioma serpiginosum Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of gallbladder Associated morphology False Congenital anomaly Inferred relationship Some 1
    Calculus of common bile duct Associated morphology False Congenital anomaly Inferred relationship Some 1
    FG syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital organoaxial volvulus of stomach (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Removal of supernumerary toe Direct morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of skull Associated morphology False Congenital anomaly Inferred relationship Some 1
    Akabane virus disease Associated morphology False Congenital anomaly Inferred relationship Some
    Universal mesentery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Linear sebaceous nevus sequence Associated morphology False Congenital anomaly Inferred relationship Some
    Fetal disproportion due to fetal myelomeningocele Associated morphology False Congenital anomaly Inferred relationship Some 1
    Oral-facial-digital syndrome Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital anomaly of vagina Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital gastric perforation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Vascular compression of esophagus by aberrant artery Associated morphology False Congenital anomaly Inferred relationship Some 3
    Brunner's gland adenoma Associated morphology False Congenital anomaly Inferred relationship Some 2
    Peutz-Jeghers polyps of small bowel Associated morphology False Congenital anomaly Inferred relationship Some 4
    Uterus subseptus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital junctional epidermolysis bullosa-pyloric atresia syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pigmented hairy epidermal nevus Associated morphology False Congenital anomaly Inferred relationship Some
    A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Associated morphology False Congenital anomaly Inferred relationship Some 3
    Hidrotic ectodermal dysplasia syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Ichthyosis linearis circumflexa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Peutz-Jeghers syndrome Associated morphology False Congenital anomaly Inferred relationship Some 3
    Pancreas divisum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Uterus biforis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Straight back syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital muscular hypertrophy-cerebral syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Multi-core congenital myopathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of small intestine Associated morphology False Congenital anomaly Inferred relationship Some 1
    Reconstruction of cleft foot Direct morphology False Congenital anomaly Inferred relationship Some 2
    Vascular compression of esophagus by aberrant right subclavian artery arising from descending aorta Associated morphology False Congenital anomaly Inferred relationship Some 3
    Anomalous origin of left circumflex artery from right coronary artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of testis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hay-Wells syndrome of ectodermal dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 3
    Complete phocomelia of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Xeroderma pigmentosum, group E Associated morphology False Congenital anomaly Inferred relationship Some 1
    Facioscapulohumeral muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some
    Leydig cell agenesis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital shortening of arm Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fibrous hamartoma of infancy Associated morphology False Congenital anomaly Inferred relationship Some
    Nevus lipomatosus cutaneous superficialis Associated morphology False Congenital anomaly Inferred relationship Some

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