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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 abnormality of external ear Associated morphology False anomalie congénitale Inferred relationship Some 1
    Retrosternal thyroid gland Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital abnormality of iris and ciliary body (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Mosaicism 45, X; 46, XX Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hereditary splenic hypoplasia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Thyroglossal duct anomaly Associated morphology False anomalie congénitale Inferred relationship Some 1
    Gynandromorphism syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Group chromosomal alteration Associated morphology False anomalie congénitale Inferred relationship Some 2
    Chromosomal alterations of group A Associated morphology False anomalie congénitale Inferred relationship Some 2
    Chromosomal alterations of group B Associated morphology False anomalie congénitale Inferred relationship Some 2
    Chromosomal alterations of group C and X Associated morphology False anomalie congénitale Inferred relationship Some 2
    Chromosomal alterations of group D (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Chromosomal alterations of group E Associated morphology False anomalie congénitale Inferred relationship Some 2
    Chromosomal alterations of group F Associated morphology False anomalie congénitale Inferred relationship Some 2
    Chromosomal alterations of group G and Y Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of aortic arch AND/OR descending aorta (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of visual system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Isologous chimera Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of central nervous system Associated morphology False anomalie congénitale 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 anomalie congénitale Inferred relationship Some 1
    Anomaly of chromosome pair 3 Associated morphology False anomalie congénitale Inferred relationship Some 1
    12p partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hypoplastic chondrodystrophy Associated morphology False anomalie congénitale Inferred relationship Some 2
    Diplomyelia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Diplomyelia Associated morphology False anomalie congénitale Inferred relationship Some 2
    Myeloschisis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Myeloschisis Associated morphology False anomalie congénitale Inferred relationship Some 1
    20q partial trisomy (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    A rare X-linked syndromic intellectual disability characterized by 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. Intellectual disability ranges from mild to severe. Associated morphology False anomalie congénitale Inferred relationship Some 2
    Fetal malformation of central nervous system affecting obstetrical care Associated morphology False anomalie congénitale Inferred relationship Some 1
    21q partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    10q partial monosomy (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Ligation of supernumerary fingers Direct morphology False anomalie congénitale Inferred relationship Some 2
    Anomaly of chromosome pair 15 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital stenosis of external auditory canal Associated morphology False anomalie congénitale Inferred relationship Some 1
    4p partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Allantoic cyst Associated morphology False anomalie congénitale Inferred relationship Some 2
    Anomaly of chromosome pair 13 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital stenosis of aortic valve Associated morphology False anomalie congénitale Inferred relationship Some 2
    Preauricular cyst (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    syringomyélobulbie Associated morphology False anomalie congénitale Inferred relationship Some 1
    Epidermodysplasia verruciformis Associated morphology False anomalie congénitale Inferred relationship Some 1
    kyste cérébral congénital Associated morphology False anomalie congénitale Inferred relationship Some 1
    8p partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    22q partial monosomy (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Preauricular dimple Associated morphology False anomalie congénitale Inferred relationship Some 2
    Nodular calcific aortic valve stenosis Associated morphology False anomalie congénitale 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 anomalie congénitale Inferred relationship Some 1
    Complete trisomy 13 syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Colloid cyst of third ventricle Associated morphology False anomalie congénitale Inferred relationship Some 2
    Complete trisomy 14 syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of middle ear Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of the peripheral nervous system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Chimera Associated morphology False anomalie congénitale Inferred relationship Some 1
    9q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Mandibular prognathism Associated morphology False anomalie congénitale Inferred relationship Some 3
    A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems. Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of peripheral nerve Associated morphology False anomalie congénitale Inferred relationship Some 1
    Median mandibular cyst Associated morphology False anomalie congénitale 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 anomalie congénitale Inferred relationship Some 2
    microsomie partielle Associated morphology False anomalie congénitale Inferred relationship Some 2
    Iniencephaly Associated morphology False anomalie congénitale Inferred relationship Some 2
    Iniencephaly Associated morphology False anomalie congénitale Inferred relationship Some 3
    Iniencephaly Associated morphology False anomalie congénitale Inferred relationship Some 4
    7p partial monosomy (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cat eye syndrome (CES) is 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 Associated morphology False anomalie congénitale Inferred relationship Some 1
    11p partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Faun tail syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Syringobulbia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Persistent thyroglossal duct Associated morphology False anomalie congénitale Inferred relationship Some 2
    Cervical auricle Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of chromosome pair 14 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Inherited arthrogryposis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital insufficiency of aortic valve Associated morphology False anomalie congénitale Inferred relationship Some 2
    Anomaly of chromosome pair 10 Associated morphology False anomalie congénitale Inferred relationship Some 1
    13q partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    8q partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    1q partial monosomy Associated morphology False anomalie congénitale Inferred relationship Some 2
    Spina bifida of dorsal region (disorder) Associated morphology False anomalie congénitale 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 anomalie congénitale Inferred relationship Some 1
    Arteriohepatic dysplasia Associated morphology False anomalie congénitale Inferred relationship Some 2
    12p partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of chromosome pair 17 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Craniorachischisis Associated morphology False anomalie congénitale Inferred relationship Some 3
    Craniorachischisis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Spina bifida of cervical region Associated morphology False anomalie congénitale Inferred relationship Some 2
    Anomaly of chromosome pair 2 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of the thyroid gland Associated morphology False anomalie congénitale Inferred relationship Some 1
    7q partial trisomy (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Mandibular retrognathism Associated morphology False anomalie congénitale Inferred relationship Some 2
    Trisomy X syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ligation of supernumerary toes Direct morphology False anomalie congénitale Inferred relationship Some 2
    Sex phenotype-karyotype dissociation syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    1p partial monosomy Associated morphology False anomalie congénitale Inferred relationship Some 1
    Transposition of pulmonary veins Associated morphology False anomalie congénitale Inferred relationship Some 2
    Craniometaphyseal dysplasia Associated morphology False anomalie congénitale Inferred relationship Some 2
    16q partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital enlargement of coronary sinus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Anomaly of chromosome pair 7 (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care Associated morphology False anomalie congénitale Inferred relationship Some 4
    Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care Associated morphology False anomalie congénitale Inferred relationship Some 4

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    Reference Sets

    Concept inactivation indicator reference set

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    US English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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