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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
    172092016 Congenital anomaly en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    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 Only initial character 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
    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 Existential restriction modifier (core metadata concept)
    anomalie congénitale Is a anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept)
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital bilateral perisylvian syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 3
    Right posterior open bite Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 6
    Left posterior open bite (disorder) Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 6
    Lack of ossification of arch of lumbar vertebra Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital fusion of sacroiliac joint Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 5
    Vitellointestinal band (disorder) Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 4
    Bregeat's syndrome Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 2
    Infantile uterus Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 2
    Cochleate uterus Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital vesicoureterorenal reflux, bilateral Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital penile torsion Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 2
    Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder) Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 2
    Lissencephaly with cerebellar hypoplasia type B Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 2
    Lissencephaly with cerebellar hypoplasia type C Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 2
    Lissencephaly co-occurrent with congenital cerebellar hypoplasia type D (disorder) Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 2
    Lissencephaly with cerebellar hypoplasia type F Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 2
    Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients. Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 3
    GMS syndrome Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 2
    Isolated lissencephaly type 1 without known genetic defect Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 3
    Craniotelencephalic dysplasia (disorder) Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 3
    X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 4
    Lissencephaly syndrome Norman Roberts type Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 3
    Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 3
    Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 14
    Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 3
    Pettigrew syndrome Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 7
    Disorder of sex development with intellectual disability syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 3
    Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 9
    Carrier of haemochromatosis Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept)
    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 Existential restriction modifier (core metadata concept) 9
    Congenital anomaly of mother complicating pregnancy (disorder) Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 4
    Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 5
    Carrier of chromosome translocation (finding) Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept)
    Carrier of beta thalassemia (finding) Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept)
    Carrier of hemoglobinopathy C disorder Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept)
    Carrier of alpha thalassemia (finding) Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept)
    Carrier of hemoglobinopathy E disorder (finding) Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept)
    Carrier of fragile X chromosome Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept)
    Carrier of high risk cancer mutation gene (finding) Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept)
    Carrier of heritable cancer Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept)
    Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 8
    A rare multiple congenital anomalies/dysmorphic syndrome characterised 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 Existential restriction modifier (core metadata concept) 12
    Carrier of Duchenne muscular dystrophy (finding) Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept)
    Carrier of Canavan disease (finding) Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept)
    Carrier of haemoglobinopathy disorder Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept)
    Carrier of familial dysautonomia (finding) Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept)
    Carrier of muscular dystrophy (finding) Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept)
    Carrier of von Willebrand disease (finding) Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept)
    Pseudovaginal perineoscrotal hypospadias Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 3
    Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type Associated morphology False anomalie congénitale Inferred relationship Existential restriction modifier (core metadata concept) 4

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    Reference Sets

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