FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.8-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
    10q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Coarctation of aorta Associated morphology False anomalie congénitale Inferred relationship Some 2
    Accessory adrenal cortex Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hemimyelia Associated morphology False anomalie congénitale Inferred relationship Some 2
    5p partial trisomy Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of pituitary gland Associated morphology False anomalie congénitale Inferred relationship Some 1
    Partial tetrasomy of chromosome 9 (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital chromosomal disease Associated morphology False anomalie congénitale Inferred relationship Some 1
    Complete trisomy 9 syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    XX males Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hydrorhachis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Anomaly of chromosome pair 1 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital absence of the spinal cord and brain Associated morphology False anomalie congénitale Inferred relationship Some 2
    Pleonotia Associated morphology False anomalie congénitale Inferred relationship Some 2
    14q partial trisomy (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    19q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of ossicles of ear Associated morphology False anomalie congénitale Inferred relationship Some 1
    Sotos' syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Septo-optic dysplasia sequence Associated morphology False anomalie congénitale Inferred relationship Some 3
    6q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Angelman syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    A neural tube defect with characteristics of improper closure of the spinal column during embryonal development. In the case of spina bifida occulta the site of the lesion is not exposed, there is a midline defect of the vertebral bodies without protrusion of the spinal cord or meninges. Associated morphology False anomalie congénitale Inferred relationship Some 1
    A neural tube defect with characteristics of improper closure of the spinal column during embryonal development. In the case of spina bifida occulta the site of the lesion is not exposed, there is a midline defect of the vertebral bodies without protrusion of the spinal cord or meninges. Associated morphology False anomalie congénitale Inferred relationship Some 3
    Amyoplasie, kongenitale Associated morphology False anomalie congénitale Inferred relationship Some 4
    Spina bifida of lumbar region Associated morphology False anomalie congénitale Inferred relationship Some 2
    Complete trisomy 16 syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    3p partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    9p partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    8p partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Double aortic valve Associated morphology False anomalie congénitale Inferred relationship Some 2
    Complete trisomy 10 syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    XXXY syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Complete monosomy 21 (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Amyelia Associated morphology False anomalie congénitale Inferred relationship Some 2
    1q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of chromosome pair 19 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Known OR suspected fetal hydrocephalus affecting obstetrical care Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of spinal cord Associated morphology False anomalie congénitale Inferred relationship Some 1
    7q partial monosomy Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of chromosome Y Associated morphology False anomalie congénitale Inferred relationship Some 1
    hydromyéloméningocèle Associated morphology False anomalie congénitale Inferred relationship Some 2
    Autosomal anomaly characterised by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies. Associated morphology False anomalie congénitale Inferred relationship Some 1
    XY females Associated morphology False anomalie congénitale Inferred relationship Some 1
    7p partial trisomy (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Caudal regression syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    14q partial proximal trisomy syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital mandibular hypoplasia Associated morphology False anomalie congénitale Inferred relationship Some 2
    6p partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of ear Associated morphology False anomalie congénitale Inferred relationship Some 1
    chondrodystrophie malacique Associated morphology False anomalie congénitale Inferred relationship Some 4
    Congenital accessory skin tag Associated morphology False anomalie congénitale Inferred relationship Some 2
    Anomaly of chromosome pair 4 Associated morphology False anomalie congénitale Inferred relationship Some 1
    An autosomal anomaly characterised by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases. Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of head Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hyperplastic chondrodystrophy Associated morphology False anomalie congénitale Inferred relationship Some 2
    A rare autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics. Associated morphology False anomalie congénitale Inferred relationship Some 1
    16p partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of nervous system Associated morphology False anomalie congénitale Inferred relationship Some 1
    4q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Prader-Willi syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Persistent lanugo Associated morphology False anomalie congénitale Inferred relationship Some 2
    3q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital absence of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital absence of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital absence of mandible Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital absence of tympanic anulus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Cleft face Associated morphology False anomalie congénitale Inferred relationship Some 2
    Cleft mandible Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital abnormal fusion of mandible Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital abnormal fusion of tympanic anulus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital abnormal shape of aortic valve Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital abnormal shape of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital abnormal shape of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital abnormal shape of mandible Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital abnormal shape of spleen Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital abnormal shape of tympanic anulus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital absence of aortic valve Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital bent hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital bent hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital absence of spleen Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital cyst of spleen Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital hypertrophy of aortic valve Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital exophthalmos Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital fenestration of premaxilla Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital hypoplasia of aortic valve Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital hypoplasia of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital hypoplasia of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital hypoplasia of premaxilla Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital hypoplasia of spleen Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital hypoplasia of tympanic anulus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis totalis (holorachischisis) is the extreme form in which the entire spinal cord remains open. Associated morphology False anomalie congénitale Inferred relationship Some 4
    Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis totalis (holorachischisis) is the extreme form in which the entire spinal cord remains open. Associated morphology False anomalie congénitale Inferred relationship Some 3
    Incomplete ossification of tympanic anulus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of auditory ossicles Associated morphology False anomalie congénitale Inferred relationship Some 1
    Tetrasomy 12p syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of sex chromosome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital blindness Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital displacement of punctum lacrimale Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital strabismus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital flaccid paralysis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital hearing disorder Associated morphology False anomalie congénitale Inferred relationship Some 1

    Start Previous Page 62 of 124 Next End

    Reference Sets

    Concept inactivation indicator reference set

    GB English

    US English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    Back to Start