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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym Active Entire term case insensitive SNOMED CT core module
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure false Inferred relationship Existential restriction modifier
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Existential restriction modifier
    Inbound Relationships Type Active Source Characteristic Refinability Group
    10q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Coarctation of aorta Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Accessory adrenal cortex Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Hemimyelia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Partial trisomy of short arm of chromosome 5 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of pituitary gland Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Partial tetrasomy of chromosome 9 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital disorder due to abnormality of chromosome number OR structure Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Complete trisomy 9 syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    XX males Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Hydrorhachis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Anomaly of chromosome pair 1 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Amyelencephalus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Pleonotia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    14q partial trisomy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    19q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of ossicles of ear Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Sotos' syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Septo-optic dysplasia sequence Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    6q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Angelman syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Spina bifida occulta Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Spina bifida occulta Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Amyoplasia congenita disruptive sequence Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Spina bifida of lumbar region Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Complete trisomy 16 syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    3p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    9p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    8p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Double aortic valve Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Complete trisomy 10 syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    XXXY syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Complete monosomy 21 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Amyelia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    1q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomaly of chromosome pair 19 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Known OR suspected fetal hydrocephalus affecting obstetrical care Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of spinal cord Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    7q partial monosomy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomaly of chromosome Y Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Hydromeningomyelocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Ring chromosome 4 syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    XY females Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    7p partial trisomy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Caudal regression syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    14q partial proximal trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital mandibular hypoplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    6p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of ear Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Chondrodystrophy malacia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Congenital accessory skin tag Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Anomaly of chromosome pair 4 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Ring chromosome 10 syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of head Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Hyperplastic chondrodystrophy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Ring chromosome 18 syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    16p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of nervous system Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    4q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Prader-Willi syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Persistent lanugo Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    3q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital absence of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital absence of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Congenital absence of mandible Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital absence of tympanic anulus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Cleft face Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Cleft mandible Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital abnormal fusion of mandible Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital abnormal fusion of tympanic anulus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital abnormal shape of aortic valve Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital abnormal shape of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital abnormal shape of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Congenital abnormal shape of mandible Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital abnormal shape of spleen Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital abnormal shape of tympanic anulus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital absence of aortic valve Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital bent hyoid bone Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital bent hyoid bone Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Congenital absence of spleen Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital cyst of spleen Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital hypertrophy of aortic valve Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital exophthalmos Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital fenestration of premaxilla Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital hypoplasia of aortic valve Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital hypoplasia of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Congenital hypoplasia of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital hypoplasia of premaxilla Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital hypoplasia of spleen Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital hypoplasia of tympanic anulus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Holorachischisis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Holorachischisis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Incomplete ossification of tympanic anulus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital lack of ossification of auditory ossicles Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Tetrasomy 12p syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomaly of sex chromosome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital blindness Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital displacement of punctum lacrimale Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital strabismus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital flaccid paralysis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital hearing disorder Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1

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    This concept is not in any reference sets

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