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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
    280471000077112 anomalie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    anomalie congénitale Is a Morphologically abnormal structure false Inferred relationship Some
    anomalie congénitale Is a anomalie du développement false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital bilateral perisylvian syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 3
    Right posterior open bite Associated morphology False anomalie congénitale Inferred relationship Some 6
    Left posterior open bite Associated morphology False anomalie congénitale Inferred relationship Some 6
    Lack of ossification of arch of lumbar vertebra Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital fusion of sacroiliac joint Associated morphology False anomalie congénitale Inferred relationship Some 5
    Vitellointestinal band Associated morphology False anomalie congénitale Inferred relationship Some 4
    Bregeat's syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Infantile uterus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Cochleate uterus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital vesicoureterorenal reflux, bilateral Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital penile torsion Associated morphology False anomalie congénitale Inferred relationship Some 2
    Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    A rare form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder. Associated morphology False anomalie congénitale Inferred relationship Some 2
    A severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death. Associated morphology False anomalie congénitale Inferred relationship Some 2
    A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (<= -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. Associated morphology False anomalie congénitale Inferred relationship Some 2
    A severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum. Associated morphology False anomalie congénitale Inferred relationship Some 2
    Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterized by intellectual deficiency and seizures that are more severe in male patients. Associated morphology False anomalie congénitale Inferred relationship Some 3
    GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992. Associated morphology False anomalie congénitale Inferred relationship Some 2
    A diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures. Associated morphology False anomalie congénitale Inferred relationship Some 3
    Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983. Associated morphology False anomalie congénitale Inferred relationship Some 3
    A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures. Associated morphology False anomalie congénitale Inferred relationship Some 4
    Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. Associated morphology False anomalie congénitale Inferred relationship Some 3
    Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterized by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia. Associated morphology False anomalie congénitale Inferred relationship Some 3
    A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence. Associated morphology False anomalie congénitale Inferred relationship Some 4
    A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Associated morphology False anomalie congénitale Inferred relationship Some 14
    Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis. Associated morphology False anomalie congénitale Inferred relationship Some 3
    A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. Associated morphology False anomalie congénitale Inferred relationship Some 7
    A rare syndrome with 46,XY disorder of sex development characterised by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994. Associated morphology False anomalie congénitale Inferred relationship Some 3
    A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. Associated morphology False anomalie congénitale Inferred relationship Some 9
    Carrier of haemochromatosis Associated morphology False anomalie congénitale Inferred relationship Some
    A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. Associated morphology False anomalie congénitale Inferred relationship Some 9
    Congenital anomaly of mother complicating pregnancy (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. Associated morphology False anomalie congénitale Inferred relationship Some 4
    A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. Associated morphology False anomalie congénitale Inferred relationship Some 5
    Carrier of chromosome translocation (finding) Associated morphology False anomalie congénitale Inferred relationship Some
    Carrier of beta thalassemia (finding) Associated morphology False anomalie congénitale Inferred relationship Some
    Carrier of hemoglobinopathy C disorder (finding) Associated morphology False anomalie congénitale Inferred relationship Some
    Carrier of alpha thalassemia (finding) Associated morphology False anomalie congénitale Inferred relationship Some
    Carrier of hemoglobinopathy E disorder (finding) Associated morphology False anomalie congénitale Inferred relationship Some
    Carrier of fragile X chromosome (finding) Associated morphology False anomalie congénitale Inferred relationship Some
    Carrier of high risk cancer mutation gene (finding) Associated morphology False anomalie congénitale Inferred relationship Some
    Carrier of heritable cancer (finding) Associated morphology False anomalie congénitale Inferred relationship Some
    A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. Associated morphology False anomalie congénitale Inferred relationship Some 8
    A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. Associated morphology False anomalie congénitale Inferred relationship Some 12
    Carrier of Duchenne muscular dystrophy (finding) Associated morphology False anomalie congénitale Inferred relationship Some
    Carrier of Canavan disease (finding) Associated morphology False anomalie congénitale Inferred relationship Some
    Carrier of hemoglobinopathy disorder (finding) Associated morphology False anomalie congénitale Inferred relationship Some
    Carrier of familial dysautonomia (finding) Associated morphology False anomalie congénitale Inferred relationship Some
    Carrier of muscular dystrophy (finding) Associated morphology False anomalie congénitale Inferred relationship Some
    Carrier of von Willebrand disease (finding) Associated morphology False anomalie congénitale Inferred relationship Some
    Pseudovaginal perineoscrotal hypospadias Associated morphology False anomalie congénitale Inferred relationship Some 3
    Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 4

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    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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