FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.6  |  FHIR Version n/a  User: [n/a]

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
    Keratosis follicularis 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 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 naevus 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 oesophagus 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 naevus Associated morphology False Congenital anomaly Inferred relationship Some
    Oto-palato-digital syndrome, type I 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 oesophagus 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 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
    Naevus 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 oesophagotracheal 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 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 Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital rectovestibular fistula 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 oesophagus 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

    Start Previous Page 14 of 124 Next End

    Reference Sets

    Australian dialect reference set

    Concept inactivation indicator reference set

    Description inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set

    Back to Start