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, 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
    overtallige atrioventrikulærklapflige, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some 1
    hypofyseanomali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital urethral valve Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital portal-systemic shunt in which at least some portal blood perfuses the liver. Associated morphology False kongenit anomali Inferred relationship Some 1
    Korrektion af kongenit deformitet i skulder eller overarm Direct morphology False kongenit anomali Inferred relationship Some 1
    Congenital myopathy with abnormal subcellular organelles Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other congenital malformations of ureter Associated morphology False kongenit anomali Inferred relationship Some 1
    Double inlet ventricle Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other congenital malformations of the musculoskeletal system Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other congenital deformities of chest Associated morphology False kongenit anomali Inferred relationship Some 1
    Thoracoschisis Associated morphology False kongenit anomali Inferred relationship Some 1
    Dysgenesis of lacrimal punctum (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital stenosis of larynx, trachea and bronchus Associated morphology False kongenit anomali Inferred relationship Some 1
    anden lungeanomali Associated morphology False kongenit anomali Inferred relationship Some 1
    anomali af endokrin kirtel, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    anden reduktionsdeformitet af hjernen, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Uspecificeret spina bifida uden hydrocephalus – lukket Associated morphology False kongenit anomali Inferred relationship Some 1
    Pulmonary tuberous sclerosis (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Annular pancreas Associated morphology False kongenit anomali Inferred relationship Some 2
    specificerede scleraanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    partiel monosomi 16q-syndrom Associated morphology False kongenit anomali Inferred relationship Some
    andre lungeanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Lack of ossification of metacarpal bone Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenit anomali i respirationssystemet Associated morphology False kongenit anomali Inferred relationship Some 1
    anden specificeret lungeagenesi -hypoplasi eller -dysplasi Associated morphology False kongenit anomali Inferred relationship Some 1
    Double inlet left ventricle Associated morphology False kongenit anomali Inferred relationship Some 1
    Left sided atrium connecting to both ventricles Associated morphology False kongenit anomali Inferred relationship Some 1
    anden specificeret anomali af endokrin kirtel Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of scapula Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital enlarged kidney Associated morphology False kongenit anomali Inferred relationship Some 1
    Lack of ossification of maxilla Associated morphology False kongenit anomali Inferred relationship Some 1
    Interrupted aortic arch between left subclavian and left common carotid artery Associated morphology False kongenit anomali Inferred relationship Some 1
    anden kongenit anomali af penis, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Double inlet right ventricle Associated morphology False kongenit anomali Inferred relationship Some 1
    Juvenile pelvis Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of lower respiratory system Associated morphology False kongenit anomali Inferred relationship Some 1
    Sjögren-Larsson syndrome (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Duane's syndrome, type 2 Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomaly of chromosome pair 12 Associated morphology False kongenit anomali Inferred relationship Some
    Faun tail syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomaly of chromosome pair 22 Associated morphology False kongenit anomali Inferred relationship Some
    Criss-cross heart Associated morphology False kongenit anomali Inferred relationship Some 1
    foetus compressus, barn ikke født Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital generalized flexion contractures of lower limb joints Associated morphology False kongenit anomali Inferred relationship Some 2
    Incomplete ossification of exoccipital bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Defect of telencephalic division Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of breast Associated morphology False kongenit anomali Inferred relationship Some 1
    lungeagenesi, -hypoplasi eller -dysplasi, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Redundant prepuce Associated morphology False kongenit anomali Inferred relationship Some 1
    Triphalangeal great toe Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenit hjerteanomali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Abnormal relationship of right ventricle to left ventricle Associated morphology False kongenit anomali Inferred relationship Some 1
    Lack of ossification of metatarsal bone Associated morphology False kongenit anomali Inferred relationship Some 1
    fordøjelsessystemanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Kallmans syndrom hos kvinde Associated morphology False kongenit anomali Inferred relationship Some 1
    Bilateral deficient infundibula Associated morphology False kongenit anomali Inferred relationship Some 1
    Agenesis of bronchus Associated morphology False kongenit anomali Inferred relationship Some 2
    Palmar pitting due to Darier disease Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital abnormality of external ear Associated morphology False kongenit anomali Inferred relationship Some 1
    Failure of differentiation of bones of lower limb Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital malformation of corpus callosum Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomaly of chromosome pair 4 Associated morphology False kongenit anomali Inferred relationship Some
    Nail dystrophy due to Darier's disease (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Xeroderma pigmentosum, group A Associated morphology False kongenit anomali Inferred relationship Some 1
    Reduktion af hypothalamusanomali Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of alisphenoid bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital thread-like tail Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of caudal vertebra Associated morphology False kongenit anomali Inferred relationship Some 1
    specificerede coroideaanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Trisomy 11 Associated morphology False kongenit anomali Inferred relationship Some
    Interrupted aortic arch distal to left subclavian artery Associated morphology False kongenit anomali Inferred relationship Some 1
    Triploidy syndrome Associated morphology False kongenit anomali Inferred relationship Some
    nervesystemanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of rib (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Lack of ossification of frontal bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital renal failure Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida uden angivelse af hydrocephalus, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital abnormality of relationship of cardiac component Associated morphology False kongenit anomali Inferred relationship Some 1
    Uterus subseptus Associated morphology False kongenit anomali Inferred relationship Some 1
    anomali af store vener, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital absence of liver and/or gallbladder (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Abnormal atrioventricular connection - univentricular Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of metacarpal bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Trisomy 10 Associated morphology False kongenit anomali Inferred relationship Some
    Wolffian duct cyst - female Associated morphology False kongenit anomali Inferred relationship Some 1
    Disorder resulting from duplication of all or part of the short arm of chromosome 20 with characteristics of normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. The chromosomal anomaly may occur de novo, but most reported cases arise from a reciprocal translocation or, as described in a few cases, a parental inversion. Associated morphology False kongenit anomali Inferred relationship Some
    Agyria Associated morphology False kongenit anomali Inferred relationship Some 1
    Abnormal relationship of aortic orifice to pulmonary orifice Associated morphology False kongenit anomali Inferred relationship Some 1
    Uspecificeret ureteranomali Associated morphology False kongenit anomali Inferred relationship Some 1
    Duplication of lower limb bone Associated morphology False kongenit anomali Inferred relationship Some 1
    andre væksthæmningssyndromer, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    An autosomal anomaly with characteristics of variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly and dysmorphic features. Congenital heart disease and genitourinary anomalies are reported in some cases. Associated morphology False kongenit anomali Inferred relationship Some
    andre kongenitte anomalier af øvre fordøjelseskanal Associated morphology False kongenit anomali Inferred relationship Some 1
    Autosomal dominant familial woolly hair Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of hair Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital flexion contracture of knee Associated morphology False kongenit anomali Inferred relationship Some 1
    Symmetrical dyschromatosis of extremities Associated morphology False kongenit anomali Inferred relationship Some 2
    Neurenterisk cyste og associeret malformation Associated morphology False kongenit anomali Inferred relationship Some 1
    Whole chromosome trisomy, mosaicism Associated morphology False kongenit anomali Inferred relationship Some
    Branchial cleft cyst Associated morphology False kongenit anomali Inferred relationship Some 2

    Start Previous Page 95 of 124 Next End

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    REFERS TO concept association reference set

    Back to Start