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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
    Other specified conditions due to autosomal anomalies Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Unspecified conditions due to autosomal anomalies Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Turner's phenotype, other variant karyotypes Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Turner's syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other specified sex chromosome anomaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital CNS anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital arthrogryposis caused by teratogen Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Translocation Down syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital syringomyelia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Ectopic gastric mucosa - multiple sites Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Chiari malformation type II Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Pallister-Killian syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital fibrosis syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital fibrosis of inferior rectus muscle Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Dysplasia of cerebral cortex Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Port-wine stain associated with spinal dysraphism Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Aplasia cutis in Trisomy 13 syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Café-au-lait spots and ring chromosome 11 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Autosomal chromosomal disorder Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    XXYY syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Poly Y syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Hereditary neurocutaneous angiomata Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Hereditary neurocutaneous angiomata Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Spina bifida with hydrocephalus of late onset Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Spina bifida with hydrocephalus of late onset Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Sturge-Weber syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Sturge-Weber syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Axenfeld anomaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Axenfeld anomaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital anomaly of uvula Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of uvula Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Levoatrial cardinal vein Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Levoatrial cardinal vein Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Micropapilla Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Micropapilla Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Specified optic disc anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Specified optic disc anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital epicardial cyst Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital epicardial cyst Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Absence of superior vena cava Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Absence of superior vena cava Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital fissure of epiglottis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital fissure of epiglottis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Congenital uterovesical fistula Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital uterovesical fistula Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Female epispadias Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Female epispadias Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Reduction of gigantism of foot Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Reduction of gigantism of foot Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Metatarsal osteotomy for correction of congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Metatarsal osteotomy for correction of congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Release of syndactyly of toes Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Release of syndactyly of toes Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Amputation of supernumerary toe Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Amputation of supernumerary toe Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Correction of congenital crossed toes Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Correction of congenital crossed toes Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Reduction of macrodactyly of toe Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Reduction of macrodactyly of toe Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Failure of differentiation of bones of lower limb Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Failure of differentiation of bones of lower limb Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital synostosis of lower limb bones Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital synostosis of lower limb bones Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Duplication of lower limb bone Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Duplication of lower limb bone Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital undergrowth of lower limb Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital undergrowth of lower limb Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital undergrowth of whole of lower limb Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital undergrowth of whole of lower limb Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Constriction ring syndrome of lower limb Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Constriction ring syndrome of lower limb Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Constriction ring of lower limb Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Constriction ring of lower limb Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Constriction ring of lower limb with lymphedema Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Constriction ring of lower limb with lymphedema Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Constriction ring syndrome of lower limb with amputation Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Constriction ring syndrome of lower limb with amputation Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Abnormal palmar creases Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Abnormal palmar creases Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Pachydermoperiostosis of nail Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Pachydermoperiostosis of nail Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Anterior perimaxillary faciosynostosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anterior perimaxillary faciosynostosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Complete perimaxillary faciosynostosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Complete perimaxillary faciosynostosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Posterior perimaxillary faciosynostosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Posterior perimaxillary faciosynostosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Spheno-fronto-parietal craniofaciosynostosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Spheno-fronto-parietal craniofaciosynostosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Pulmonary tuberous sclerosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Pulmonary tuberous sclerosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Ichthyosis congenita with biliary atresia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Ichthyosis congenita with biliary atresia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital anomaly of bone and joint Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of bone and joint Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Keratosis pilaris with ichthyosis and deafness Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Keratosis pilaris with ichthyosis and deafness Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4

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    This concept is not in any reference sets

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