FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.7  |  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

    0 descendants.

    Expanded Value Set

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

    Start Previous Page 64 of 124 Next End

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    Back to Start