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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
    Keratolytic winter erythema Associated morphology False kongenit anomali Inferred relationship Some 1
    Xeroderma pigmentosum Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital stenosis of external auditory canal Associated morphology False kongenit anomali Inferred relationship Some 1
    Familial absence of villi Associated morphology False kongenit anomali Inferred relationship Some 1
    Cervical myelocystocele Associated morphology False kongenit anomali Inferred relationship Some 1
    Blunderbuss pelvis Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenit uterusabnormitet, barn født, med post partum-komplikation Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital atrophy of left lobe of liver Associated morphology False kongenit anomali Inferred relationship Some 1
    tredobbelt nyreanlæg Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other congenital malformations of middle ear Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida uden angivelse af hydrocephalus Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomaly of dental arch Associated morphology False kongenit anomali Inferred relationship Some 1
    Partial trisomy 18 in Edward's syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Persistent Gartner's duct (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Persistent thyroglossal duct Associated morphology False kongenit anomali Inferred relationship Some 2
    Visse kongenitte muskuloskeletale deformiteter Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital thickening of talus Associated morphology False kongenit anomali Inferred relationship Some 1
    Unbalanced translocation and insertion Associated morphology False kongenit anomali Inferred relationship Some
    Congenital anomaly of sclera Associated morphology False kongenit anomali Inferred relationship Some 1
    partiel trisomi 8p-syndrom Associated morphology False kongenit anomali Inferred relationship Some
    Congenital anomaly of tympanic anulus Associated morphology False kongenit anomali Inferred relationship Some 1
    Myotubular myopathy with type I atrophy Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital branched rib cartilage Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other congenital malformations of spine, not associated with scoliosis Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Congenital malformation of aortic and mitral valves unspecified Associated morphology False kongenit anomali Inferred relationship Some 1
    uterus bicornis, der komplicerer svangreomsorg, barn endnu ikke født Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital contracted pelvis Associated morphology False kongenit anomali Inferred relationship Some 1
    Xeroderma pigmentosum, group B Associated morphology False kongenit anomali Inferred relationship Some 1
    5p partial trisomy Associated morphology False kongenit anomali Inferred relationship Some
    Incomplete ossification of metacarpal bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Laryngeal hypoplasia Associated morphology False kongenit anomali Inferred relationship Some 1
    anden manglende differentiering af knoglevæv i arm Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital polyp of ureter (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Cerebro-oculo-facio-skeletal syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Cutaneous lesion resulting from spinal dysraphism (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    andre specificerede hudanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other congenital malformations of bony thorax Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital stricture of osseous meatus Associated morphology False kongenit anomali Inferred relationship Some 1
    Myocardial bridge of coronary artery (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Hooded penis Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital hypoplasia of carpal bone Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital malformation of pancreas Associated morphology False kongenit anomali Inferred relationship Some 2
    andre specificerede øreanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital tracheo-oesophageal cleft Associated morphology False kongenit anomali Inferred relationship Some 3
    Pulmonary trunk stenosis Associated morphology False kongenit anomali Inferred relationship Some 1
    Bipartite ossification of centrum of lumbar vertebra Associated morphology False kongenit anomali Inferred relationship Some 1
    Retinal dysplasia Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other congenital malformations of upper limb(s), including shoulder girdle Associated morphology False kongenit anomali Inferred relationship Some 1
    bipartiær ossifikation af centrum i cokcygealhvirvels corpus vertebraee Associated morphology False kongenit anomali Inferred relationship Some 1
    Complete trisomy 20 syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Deletion seen only at prometaphase Associated morphology False kongenit anomali Inferred relationship Some
    Eruption cyst of jaw Associated morphology False kongenit anomali Inferred relationship Some 2
    Kongenit mangelfuld udvikling af overekstremitet, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Congenital malformations of the respiratory system Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of lower trunk Associated morphology False kongenit anomali Inferred relationship Some 1
    Diffuse retinal dysplasia Associated morphology False kongenit anomali Inferred relationship Some 1
    tab af tandbuelængde som følge af tab af permanente tænder Associated morphology False kongenit anomali Inferred relationship Some 1
    Acephalothorax Associated morphology False kongenit anomali Inferred relationship Some 1
    anden specificeret kongenit iktyose Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenit anomali i det muskuloskeletale system specificeret iht. anatomisk lokalisation Associated morphology False kongenit anomali Inferred relationship Some 1
    Anden overudvikling af overekstremitet Associated morphology False kongenit anomali Inferred relationship Some 1
    Status marmoratus Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit larynxfissur Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital diverticulum of ureter Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other congenital malformations of ribs Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Congenital malformation of great arteries, unspecified Associated morphology False kongenit anomali Inferred relationship Some 1
    Triplex ureter Associated morphology False kongenit anomali Inferred relationship Some 1
    cerebral hypoplasi, hjernedel ikke specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Lumbosacral agenesis Associated morphology False kongenit anomali Inferred relationship Some 1
    Disease marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioral problems. In rare cases, brain, kidney or heart malformations may be present. Associated morphology False kongenit anomali Inferred relationship Some
    Anden karpalsynostose Associated morphology False kongenit anomali Inferred relationship Some 1
    Sacral dysgenesis Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of upper trunk Associated morphology False kongenit anomali Inferred relationship Some 1
    DiGeorges syndrom Associated morphology False kongenit anomali Inferred relationship Some 3
    Camptodactyly-little finger Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital obstructive defect of renal pelvis Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital aplasia of round ligament Associated morphology False kongenit anomali Inferred relationship Some 2
    Incomplete ossification of metatarsal bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Chromosomal alterations of group E Associated morphology False kongenit anomali Inferred relationship Some
    Cervical thyroid remnant Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital small optic disc with normal visual function Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital malposition of carpal bone Associated morphology False kongenit anomali Inferred relationship Some 2
    Persistent lanugo Associated morphology False kongenit anomali Inferred relationship Some 2
    Fallot's trilogy Associated morphology False kongenit anomali Inferred relationship Some 1
    anden manglende differentiering af bløddel i arm Associated morphology False kongenit anomali Inferred relationship Some 1
    cyste i den genitoperineale rafe Associated morphology False kongenit anomali Inferred relationship Some 1
    Andre kongenitte skulderanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    Mesatipellic pelvis Associated morphology False kongenit anomali Inferred relationship Some 1
    Thyroglossal duct cyst (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of organ of Corti Associated morphology False kongenit anomali Inferred relationship Some 1
    anden manglende differentiering af knoglevæv i arm, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of lymphatic structure of trunk Associated morphology False kongenit anomali Inferred relationship Some 1
    Sacral spina bifida with hydrocephalus - open Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital thickening of rib Associated morphology False kongenit anomali Inferred relationship Some 1
    Duplication of upper limb Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital oesophageal ring Associated morphology False kongenit anomali Inferred relationship Some 1
    A rare neural tube defect with characteristics of cystic dilatation of the central canal of the spinal cord, herniating posteriorly through a dorsal spinal defect. The malformation can occur anywhere along the spinal cord but appears to be more frequent in the posterior cervical and the lumbosacral region. It may be an isolated anomaly or be associated with other defects, including anorectal and genitourinary anomalies, or sacral agenesis. Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital thickening of radius Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida with hydrocephalus - closed Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital ischemic atrophy of central nervous system structure Associated morphology False kongenit anomali Inferred relationship Some 2
    Goltz' syndrom Associated morphology False kongenit anomali Inferred relationship Some 2

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