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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
    Klinefelter's syndrome, XXYY Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Klinefelter's syndrome, XY/XXY mosaic Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Additional sex chromosome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Sex chromosome mosaicism Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Mosaic XO/XY Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Mosaic XO/XX Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Mosaic XY/XXY Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Mosaic including XXXXY Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Duplication of chromosome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Acephalothorax Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Preauricular sinus, pit or fistula Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Thoracolumbar spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Thoracolumbar spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Fissured spine Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Fissured spine Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Myelocele with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Closed spina bifida with Arnold-Chiari malformation Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Closed spina bifida with Arnold-Chiari malformation Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Arachnoid / ependymal cyst Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Mermaid sirenomelia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Hypoplasia of brain gyri Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital stricture of osseous meatus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Branchial cleft Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Malformation of throat Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Absence of sex chromosome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Pseudotrisomy 18 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Autosomal deletion - mosaicism Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Turner's phenotype, partial X deletion karyotype Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Ear auricle and external auditory canal absent Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Branchial cleft sinus and fistula Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Deletion of long arm of chromosome 18 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Deletion of short arm of chromosome 18 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital malformation of ear Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Klinefelter's syndrome XXXY Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Klinefelter's syndrome XXXXY Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of nervous system of head/neck Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Klinefelter's syndrome, XXY Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Syringomyelia or syringobulbia NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Iniencephaly NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Iniencephaly NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Iniencephaly NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Unspecified spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Unspecified spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Spina bifida with hydrocephalus, unspecified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Spina bifida with hydrocephalus, unspecified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Other specified spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Other specified spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other spina bifida with hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Other spina bifida with hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Spina bifida with hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Spina bifida with hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Spina bifida without mention of hydrocephalus, site unspecified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Spina bifida without mention of hydrocephalus, site unspecified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Unspecified spina bifida without mention of hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Unspecified spina bifida without mention of hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Spinal hydromeningocele, unspecified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Spinal hydromeningocele NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Spinal meningocele of unspecified site Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Spinal meningocele NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Meningomyelocele of unspecified site Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Meningomyelocele NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Myelocele of unspecified site Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Myelocele NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Myelocystocele of unspecified site Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Myelocystocele of unspecified site Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Myelocystocele NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Myelocystocele NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Unspecified spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Unspecified spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Spina bifida without hydrocephalus - open NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Spina bifida without hydrocephalus - open NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Unspecified spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Unspecified spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Spina bifida NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Spina bifida NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Other nervous system congenital anomalies Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Agenesis of brain, part unspecified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Aplasia of brain, part unspecified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Hypoplasia of brain, part unspecified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomaly of cerebrum NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomaly of cerebellum NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Other specified reduction deformities of brain Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other reduction deformity of brain NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other specified brain anomalies Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital cerebral cyst NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other specified brain anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other specified spinal cord anomalies Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other specified spinal cord anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other specified spinal cord anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Spinal cord anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Spinal cord anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Other specified nervous system anomalies Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Agenesis of nerve, unspecified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other specified nervous system anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Agenesis of nerve NEC Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Unspecified nervous system anomaly of brain, cord and nervous system Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Unspecified nervous system anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Nervous system anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Middle ear anomaly NEC NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1

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