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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym Active Case insensitive SNOMED CT core
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Case insensitive 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 abnormality false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    1q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 19 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Known OR suspected fetal hydrocephalus affecting obstetrical care Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of spinal cord Associated morphology False Congenital anomaly Inferred relationship Some 1
    7q partial monosomy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome Y Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hydromeningomyelocele Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ring chromosome 4 syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    XY females Associated morphology False Congenital anomaly Inferred relationship Some 1
    7p partial trisomy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Caudal dysplasia sequence Associated morphology False Congenital anomaly Inferred relationship Some 2
    14q partial proximal trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital mandibular hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    6p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chondrodystrophy malacia Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital accessory skin tag Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomaly of chromosome pair 4 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ring chromosome 10 syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of head Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hyperplastic chondrodystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ring chromosome 18 syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    16p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of nervous system Associated morphology False Congenital anomaly Inferred relationship Some 1
    4q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Prader-Willi syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Persistent lanugo Associated morphology False Congenital anomaly Inferred relationship Some 2
    3q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital absence of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital absence of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital absence of mandible Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital absence of tympanic anulus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cleft face Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cleft mandible Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormal fusion of mandible Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormal fusion of tympanic anulus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormal shape of aortic valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormal shape of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormal shape of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital abnormal shape of mandible Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormal shape of spleen Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormal shape of tympanic anulus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital absence of aortic valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital bent hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital bent hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital absence of spleen Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital cyst of spleen Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital hypertrophy of aortic valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital exophthalmos Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital fenestration of premaxilla Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital hypoplasia of aortic valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital hypoplasia of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital hypoplasia of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital hypoplasia of premaxilla Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital hypoplasia of spleen Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital hypoplasia of tympanic anulus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Holorachischisis Associated morphology False Congenital anomaly Inferred relationship Some 4
    Holorachischisis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Incomplete ossification of tympanic anulus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of auditory ossicles Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tetrasomy 12p syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of sex chromosome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital blindness Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital displacement of punctum lacrimale Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital strabismus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital flaccid paralysis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hearing disorder Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital deafness Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 20 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of epidermal appendages Associated morphology False Congenital anomaly Inferred relationship Some 1
    Syringomyelia and syringobulbia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acrania Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acrania Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida with stenosis of aqueduct of Sylvius Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cervical spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cervical spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Thoracic spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Thoracic spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 4
    Lumbar spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lumbar spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spinal hydromeningocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cervical spinal hydromeningocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cervical hydromyelocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Thoracic hydromyelocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lumbar hydromyelocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spinal meningocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cervical spinal meningocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Thoracic spinal meningocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lumbar spinal meningocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cervical meningomyelocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Thoracic meningomyelocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lumbar meningomyelocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cervical myelocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Thoracic myelocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Lumbar myelocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Myelocystocele Associated morphology False Congenital anomaly Inferred relationship Some 2
    Myelocystocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cervical myelocystocele Associated morphology False Congenital anomaly Inferred relationship Some 2

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    Reference Sets

    Australian dialect reference set

    Concept inactivation indicator reference set

    Description inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set

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