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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
    Pentalogy of Fallot (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Dextraposition of aorta in Fallot's tetralogy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Tetralogy of Fallot NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tetralogy of Fallot, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tetralogy of Fallot with absent pulmonary valve (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Conjunctivitis associated with epidermolysis bullosa (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hereditary endothelial dystrophy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hereditary endothelial dystrophy type 1 (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hereditary endothelial dystrophy type 2 (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Axenfeld-Rieger syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Supernumerary canaliculus (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Angelman syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Angelman syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida with hydrocephalus of late onset Associated morphology False Congenital anomaly Inferred relationship Some 4
    Spina bifida with hydrocephalus of late onset Associated morphology False Congenital anomaly Inferred relationship Some 5
    Sturge-Weber syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sturge-Weber syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Axenfeld anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Axenfeld anomaly Associated morphology False Congenital anomaly Inferred relationship Some 3
    Axenfeld anomaly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Levoatrial cardinal vein Associated morphology False Congenital anomaly Inferred relationship Some 1
    Levoatrial cardinal vein Associated morphology False Congenital anomaly Inferred relationship Some 2
    Micropapilla Associated morphology False Congenital anomaly Inferred relationship Some 1
    Micropapilla Associated morphology False Congenital anomaly Inferred relationship Some 2
    Specified optic disc anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Specified optic disc anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital epicardial cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital epicardial cyst Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital fissure of epiglottis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital fissure of epiglottis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital uterovesical fistula Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital uterovesical fistula Associated morphology False Congenital anomaly Inferred relationship Some 3
    Female epispadias (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Female epispadias (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormal palmar creases Associated morphology False Congenital anomaly Inferred relationship Some 2
    Abnormal palmar creases Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pachydermoperiostosis of nail Associated morphology False Congenital anomaly Inferred relationship Some 2
    Pachydermoperiostosis of nail Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anterior perimaxillary faciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anterior perimaxillary faciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Complete perimaxillary faciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Complete perimaxillary faciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Posterior perimaxillary faciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Posterior perimaxillary faciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spheno-fronto-parietal craniofaciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spheno-fronto-parietal craniofaciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pulmonary tuberous sclerosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pulmonary tuberous sclerosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of bone and joint Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of bone and joint Associated morphology False Congenital anomaly Inferred relationship Some 1
    Keratosis pilaris with ichthyosis and deafness Associated morphology False Congenital anomaly Inferred relationship Some 2
    Keratosis pilaris with ichthyosis and deafness Associated morphology False Congenital anomaly Inferred relationship Some 4
    Correction of congenital hallux valgus Direct morphology False Congenital anomaly Inferred relationship Some 1
    Correction of congenital hallux valgus Direct morphology False Congenital anomaly Inferred relationship Some 2
    Walker-Warburg congenital muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Walker-Warburg congenital muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Dickson-Diveley operation Direct morphology False Congenital anomaly Inferred relationship Some 2
    Dickson-Diveley operation Direct morphology False Congenital anomaly Inferred relationship Some 3
    Tendon transfer and arthrodesis to correct claw toe Direct morphology False Congenital anomaly Inferred relationship Some 4
    Tendon transfer and arthrodesis to correct claw toe Direct morphology False Congenital anomaly Inferred relationship Some 3
    Congenital tracheo-oesophageal cleft Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital tracheo-oesophageal cleft Associated morphology False Congenital anomaly Inferred relationship Some 2
    Undergrowth of the thumb Associated morphology False Congenital anomaly Inferred relationship Some 2
    Undergrowth of the thumb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital sacrococcygeal anomaly (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital sacrococcygeal anomaly (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital sacrococcygeal anomaly (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Neurofibromatosis type 3 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neurofibromatosis type 3 Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ash leaf spot, tuberous sclerosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ash leaf spot, tuberous sclerosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Shagreen patch Associated morphology False Congenital anomaly Inferred relationship Some 2
    Shagreen patch Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of curly fifth toe Direct morphology False Congenital anomaly Inferred relationship Some 1
    Correction of curly fifth toe Direct morphology False Congenital anomaly Inferred relationship Some 2
    Unilateral undescended testis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unilateral undescended testis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Undescended testes - bilateral Associated morphology False Congenital anomaly Inferred relationship Some 2
    Undescended testes - bilateral Associated morphology False Congenital anomaly Inferred relationship Some 1
    Rudimentary uterus in male Associated morphology False Congenital anomaly Inferred relationship Some 1
    Rudimentary uterus in male Associated morphology False Congenital anomaly Inferred relationship Some 2
    Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Facial asymmetry Associated morphology False Congenital anomaly Inferred relationship Some 2
    Facial asymmetry Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neurofibromatosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neurofibromatosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Fibrous skin tumor of tuberous sclerosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Fibrous skin tumor of tuberous sclerosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Modified Johanson operation for claw toe with arthrodesis Direct morphology False Congenital anomaly Inferred relationship Some 3
    Modified Johanson operation for claw toe with arthrodesis Direct morphology False Congenital anomaly Inferred relationship Some 2
    Von Hippel-Lindau syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Von Hippel-Lindau syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Peutz-Jeghers polyps of small bowel Associated morphology False Congenital anomaly Inferred relationship Some 3
    Peutz-Jeghers polyps of small bowel Associated morphology False Congenital anomaly Inferred relationship Some 2
    Peutz-Jeghers syndrome Associated morphology False Congenital anomaly Inferred relationship Some 3
    Peutz-Jeghers syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Repair of claw toe (procedure) Direct morphology False Congenital anomaly Inferred relationship Some 1
    Repair of claw toe (procedure) Direct morphology False Congenital anomaly Inferred relationship Some 2
    Tuberous sclerosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tuberous sclerosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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