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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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure false Inferred relationship Some
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital abnormality of external ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    Retrosternal thyroid gland Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of iris and ciliary body (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mosaicism 45, X; 46, XX Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hereditary splenic hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Thyroglossal duct anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Gynandromorphism syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Group chromosomal alteration Associated morphology False Congenital anomaly Inferred relationship Some 2
    Chromosomal alterations of group A Associated morphology False Congenital anomaly Inferred relationship Some 2
    Chromosomal alterations of group B Associated morphology False Congenital anomaly Inferred relationship Some 2
    Chromosomal alterations of group C and X Associated morphology False Congenital anomaly Inferred relationship Some 2
    Chromosomal alterations of group D (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Chromosomal alterations of group E Associated morphology False Congenital anomaly Inferred relationship Some 2
    Chromosomal alterations of group F Associated morphology False Congenital anomaly Inferred relationship Some 2
    Chromosomal alterations of group G and Y Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of aortic arch AND/OR descending aorta (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of visual system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Isologous chimera Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of central nervous system Associated morphology False Congenital anomaly 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 Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 3 Associated morphology False Congenital anomaly Inferred relationship Some 1
    12p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypoplastic chondrodystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Diplomyelia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Diplomyelia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Myeloschisis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Myeloschisis Associated morphology False Congenital anomaly Inferred relationship Some 1
    20q partial trisomy (disorder) Associated morphology False Congenital anomaly 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 Congenital anomaly Inferred relationship Some 2
    Fetal malformation of central nervous system affecting obstetrical care Associated morphology False Congenital anomaly Inferred relationship Some 1
    21q partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    10q partial monosomy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ligation of supernumerary fingers Direct morphology False Congenital anomaly Inferred relationship Some 2
    Anomaly of chromosome pair 15 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital stenosis of external auditory canal Associated morphology False Congenital anomaly Inferred relationship Some 1
    4p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Allantoic cyst Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomaly of chromosome pair 13 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital stenosis of aortic valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Preauricular cyst (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Syringomyelobulbia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Epidermodysplasia verruciformis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital cerebral cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    8p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    22q partial monosomy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Preauricular dimple Associated morphology False Congenital anomaly Inferred relationship Some 2
    Nodular calcific aortic valve stenosis Associated morphology False Congenital anomaly 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 Congenital anomaly Inferred relationship Some 1
    Complete trisomy 13 syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Colloid cyst of third ventricle Associated morphology False Congenital anomaly Inferred relationship Some 2
    Complete trisomy 14 syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of middle ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of the peripheral nervous system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chimera Associated morphology False Congenital anomaly Inferred relationship Some 1
    9q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mandibular prognathism Associated morphology False Congenital anomaly 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 Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of peripheral nerve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Median mandibular cyst Associated morphology False Congenital anomaly 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 Congenital anomaly Inferred relationship Some 2
    Meromicrosomia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Iniencephaly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Iniencephaly Associated morphology False Congenital anomaly Inferred relationship Some 3
    Iniencephaly Associated morphology False Congenital anomaly Inferred relationship Some 4
    7p partial monosomy (disorder) Associated morphology False Congenital anomaly 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 Congenital anomaly Inferred relationship Some 1
    11p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Faun tail syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Syringobulbia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Persistent thyroglossal duct Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cervical auricle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 14 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Inherited arthrogryposis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital insufficiency of aortic valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomaly of chromosome pair 10 Associated morphology False Congenital anomaly Inferred relationship Some 1
    13q partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    8q partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    1q partial monosomy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida of dorsal region (disorder) Associated morphology False Congenital anomaly 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 Congenital anomaly Inferred relationship Some 1
    Arteriohepatic dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    12p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 17 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Craniorachischisis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Craniorachischisis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida of cervical region Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomaly of chromosome pair 2 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of the thyroid gland Associated morphology False Congenital anomaly Inferred relationship Some 1
    7q partial trisomy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mandibular retrognathism Associated morphology False Congenital anomaly Inferred relationship Some 2
    Trisomy X syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ligation of supernumerary toes Direct morphology False Congenital anomaly Inferred relationship Some 2
    Sex phenotype-karyotype dissociation syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    1p partial monosomy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Transposition of pulmonary veins Associated morphology False Congenital anomaly Inferred relationship Some 2
    Craniometaphyseal dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    16q partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital enlargement of coronary sinus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomaly of chromosome pair 7 (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care Associated morphology False Congenital anomaly Inferred relationship Some 4
    Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care Associated morphology False Congenital anomaly Inferred relationship Some 4

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