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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
    Congenital abnormality of external ear Associated morphology False kongenit anomali Inferred relationship Some 1
    Retrosternal thyroid gland Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital abnormality of iris and ciliary body Associated morphology False kongenit anomali Inferred relationship Some 1
    Mosaicism 45, X; 46, XX Associated morphology False kongenit anomali Inferred relationship Some 1
    Hereditary splenic hypoplasia Associated morphology False kongenit anomali Inferred relationship Some 1
    Thyroglossal duct anomaly Associated morphology False kongenit anomali Inferred relationship Some 1
    Gynandromorphism syndrome (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Group chromosomal alteration Associated morphology False kongenit anomali Inferred relationship Some 2
    Chromosomal alterations of group A Associated morphology False kongenit anomali Inferred relationship Some 2
    Chromosomal alterations of group B Associated morphology False kongenit anomali Inferred relationship Some 2
    Chromosomal alterations of group C and X Associated morphology False kongenit anomali Inferred relationship Some 2
    Chromosomal alterations of group D Associated morphology False kongenit anomali Inferred relationship Some 2
    Chromosomal alterations of group E Associated morphology False kongenit anomali Inferred relationship Some 2
    Chromosomal alterations of group F (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Chromosomal alterations of group G and Y Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of aortic arch AND/OR descending aorta (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of visual system Associated morphology False kongenit anomali Inferred relationship Some 1
    Isologous chimera Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of central nervous system Associated morphology False kongenit anomali Inferred relationship Some 1
    An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomaly of chromosome pair 3 Associated morphology False kongenit anomali Inferred relationship Some 1
    12p partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Hypoplastic chondrodystrophy Associated morphology False kongenit anomali Inferred relationship Some 2
    Diplomyelia Associated morphology False kongenit anomali Inferred relationship Some 1
    Diplomyelia Associated morphology False kongenit anomali Inferred relationship Some 2
    Myeloschisis (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Myeloschisis (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    20q partial trisomy (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    A rare X-linked syndromic intellectual disability with characteristics of global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognized as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes. Associated morphology False kongenit anomali Inferred relationship Some 2
    Central nervous system malformation in fetus affecting obstetrical care (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    21q partial monosomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    10q partial monosomy (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Ligation of supernumerary fingers Direct morphology False kongenit anomali Inferred relationship Some 2
    Anomaly of chromosome pair 15 Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital stenosis of external auditory canal Associated morphology False kongenit anomali Inferred relationship Some 1
    4p partial monosomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Allantoic cyst Associated morphology False kongenit anomali Inferred relationship Some 2
    Anomaly of chromosome pair 13 Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital stenosis of aortic valve Associated morphology False kongenit anomali Inferred relationship Some 2
    Preauricular cyst Associated morphology False kongenit anomali Inferred relationship Some 1
    Syringomyelobulbi Associated morphology False kongenit anomali Inferred relationship Some 1
    Epidermodysplasia verruciformis Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital cerebral cyst Associated morphology False kongenit anomali Inferred relationship Some 1
    8p partial monosomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    22q partial monosomy (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Preauricular dimple Associated morphology False kongenit anomali Inferred relationship Some 2
    Nodular calcific aortic valve stenosis Associated morphology False kongenit anomali Inferred relationship Some 3
    A rare partial duplication of the long arm of chromosome 14 with characteristics of variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia. Associated morphology False kongenit anomali Inferred relationship Some 1
    Complete trisomy 13 syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    Colloid cyst of third ventricle Associated morphology False kongenit anomali Inferred relationship Some 2
    Komplet trisomi 14-syndrom Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of middle ear Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of the peripheral nervous system Associated morphology False kongenit anomali Inferred relationship Some 1
    Chimera Associated morphology False kongenit anomali Inferred relationship Some 1
    9q partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Mandibular prognathism Associated morphology False kongenit anomali Inferred relationship Some 3
    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 1
    Congenital anomaly of peripheral nerve Associated morphology False kongenit anomali Inferred relationship Some 1
    Median mandibular cyst Associated morphology False kongenit anomali Inferred relationship Some 2
    A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus. Associated morphology False kongenit anomali Inferred relationship Some 2
    Meromikrosomi Associated morphology False kongenit anomali Inferred relationship Some 2
    Iniencephaly (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Iniencephaly (disorder) Associated morphology False kongenit anomali Inferred relationship Some 3
    Iniencephaly (disorder) Associated morphology False kongenit anomali Inferred relationship Some 4
    7p partial monosomy (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    A rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. Most patients have a small supernumerary bi-satellited marker chromosome that results in partial tetrasomy of 22pter-22q11. In one third of cases, this extra chromosome is present in a mosaic state. Other cytogenetic anomalies have been rarely reported, including partial trisomy of chromosome 22 and intrachromosomal triplication of the 22q11 region. Associated morphology False kongenit anomali Inferred relationship Some 1
    11p partial trisomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Faun tail syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Syringobulbia Associated morphology False kongenit anomali Inferred relationship Some 1
    Persistent thyroglossal duct Associated morphology False kongenit anomali Inferred relationship Some 2
    Cervical auricle Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomaly of chromosome pair 14 Associated morphology False kongenit anomali Inferred relationship Some 1
    Inherited arthrogryposis Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital insufficiency of aortic valve Associated morphology False kongenit anomali Inferred relationship Some 2
    Anomaly of chromosome pair 10 Associated morphology False kongenit anomali Inferred relationship Some 1
    13q partial monosomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    8q partial monosomy syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    1q partial monosomy Associated morphology False kongenit anomali Inferred relationship Some 2
    Spina bifida of dorsal region (disorder) Associated morphology False kongenit anomali Inferred relationship Some 3
    An autosomal anomaly with characteristics of variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinaemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals. Associated morphology False kongenit anomali Inferred relationship Some 1
    Arteriohepatic dysplasia Associated morphology False kongenit anomali Inferred relationship Some 2
    partiel monosomi 12p-syndrom Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomaly of chromosome pair 17 Associated morphology False kongenit anomali Inferred relationship Some 1
    Craniorachischisis Associated morphology False kongenit anomali Inferred relationship Some 3
    Craniorachischisis Associated morphology False kongenit anomali Inferred relationship Some 2
    Spina bifida of cervical region Associated morphology False kongenit anomali Inferred relationship Some 2
    Anomaly of chromosome pair 2 Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of the thyroid gland Associated morphology False kongenit anomali Inferred relationship Some 1
    7q partial trisomy (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Mandibular retrognathism Associated morphology False kongenit anomali Inferred relationship Some 2
    Trisomy X syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Ligation of supernumerary toes Direct morphology False kongenit anomali Inferred relationship Some 2
    Sex phenotype-karyotype dissociation syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    1p partial monosomy Associated morphology False kongenit anomali Inferred relationship Some 1
    Transposition of pulmonary veins Associated morphology False kongenit anomali Inferred relationship Some 2
    Craniometaphyseal dysplasia Associated morphology False kongenit anomali Inferred relationship Some 2
    partiel monosomi 16q-syndrom Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital enlargement of coronary sinus Associated morphology False kongenit anomali Inferred relationship Some 2
    Anomaly of chromosome pair 7 Associated morphology False kongenit anomali Inferred relationship Some 1
    Kendt ELLER mistanke om føtal spina bifida med myelomeningocele med indvirkning på obstetrisk behandling Associated morphology False kongenit anomali Inferred relationship Some 4
    Kendt ELLER mistanke om føtal spina bifida med myelomeningocele med indvirkning på obstetrisk behandling Associated morphology False kongenit anomali Inferred relationship Some 4

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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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