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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 false Inferred relationship Some
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Other specified conditions due to autosomal anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unspecified conditions due to autosomal anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Turner's phenotype, other variant karyotypes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Turner's syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified sex chromosome anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital CNS anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital arthrogryposis caused by teratogen (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested. Associated morphology False Congenital anomaly Inferred relationship Some 2
    A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested. Associated morphology False Congenital anomaly Inferred relationship Some 3
    A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested. Associated morphology False Congenital anomaly Inferred relationship Some 4
    Translocation Down syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital syringomyelia (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ectopic gastric mucosa - multiple sites (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chiari malformation type II (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pallister-Killian syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others. Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital fibrosis of inferior rectus muscle (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Dysplasia of cerebral cortex Associated morphology False Congenital anomaly Inferred relationship Some 2
    Port-wine stain associated with spinal dysraphism (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Aplasia cutis in Trisomy 13 syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Café-au-lait spots and ring chromosome 11 Associated morphology False Congenital anomaly Inferred relationship Some 2
    Autosomal chromosomal disorder (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    XXYY syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Poly Y syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hereditary neurocutaneous angiomata (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hereditary neurocutaneous angiomata (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida with hydrocephalus of late onset Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida with hydrocephalus of late onset Associated morphology False Congenital anomaly Inferred relationship Some 4
    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 2
    Congenital anomaly of uvula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of uvula 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
    Congenital small optic disc with normal visual function Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital small optic disc with normal visual function Associated morphology False Congenital anomaly Inferred relationship Some 2
    Specified optic disc anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Specified optic disc anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital epicardial cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital epicardial cyst Associated morphology False Congenital anomaly Inferred relationship Some 2
    Absence of superior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 1
    Absence of superior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital fissure of epiglottis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital fissure of epiglottis Associated morphology False Congenital anomaly Inferred relationship Some 3
    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 1
    Female epispadias (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Reduction of gigantism of foot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Reduction of gigantism of foot Direct morphology False Congenital anomaly Inferred relationship Some 3
    Metatarsal osteotomy for correction of congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Some 2
    Metatarsal osteotomy for correction of congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Some 3
    Release of syndactyly of toes Direct morphology False Congenital anomaly Inferred relationship Some 2
    Release of syndactyly of toes Direct morphology False Congenital anomaly Inferred relationship Some 3
    Amputation of supernumerary toe Direct morphology False Congenital anomaly Inferred relationship Some 2
    Amputation of supernumerary toe Direct morphology False Congenital anomaly Inferred relationship Some 3
    Correction of congenital crossed toes Direct morphology False Congenital anomaly Inferred relationship Some 2
    Correction of congenital crossed toes Direct morphology False Congenital anomaly Inferred relationship Some 3
    Reduction of macrodactyly of toe Direct morphology False Congenital anomaly Inferred relationship Some 2
    Reduction of macrodactyly of toe Direct morphology False Congenital anomaly Inferred relationship Some 3
    Failure of differentiation of bones of lower limb (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Failure of differentiation of bones of lower limb (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital synostosis of lower limb bones Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital synostosis of lower limb bones Associated morphology False Congenital anomaly Inferred relationship Some 2
    Duplication of lower limb bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duplication of lower limb bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital undergrowth of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital undergrowth of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital undergrowth of whole of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital undergrowth of whole of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 2
    Constriction ring syndrome of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Constriction ring syndrome of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 2
    Constriction ring of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Constriction ring of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 2
    Constriction ring of lower limb with lymphedema Associated morphology False Congenital anomaly Inferred relationship Some 1
    Constriction ring of lower limb with lymphedema Associated morphology False Congenital anomaly Inferred relationship Some 2
    Constriction ring syndrome of lower limb with amputation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Constriction ring syndrome of lower limb with amputation Associated morphology False Congenital anomaly Inferred relationship Some 2
    Abnormal palmar creases Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormal palmar creases Associated morphology False Congenital anomaly Inferred relationship Some 2
    Pachydermoperiostosis of nail Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pachydermoperiostosis of nail Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anterior perimaxillary faciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anterior perimaxillary faciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Complete perimaxillary faciosynostosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Complete perimaxillary faciosynostosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Posterior perimaxillary faciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Posterior perimaxillary faciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spheno-fronto-parietal craniofaciosynostosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spheno-fronto-parietal craniofaciosynostosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    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 2
    Ichthyosis congenita with biliary atresia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ichthyosis congenita with biliary atresia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of bone and joint Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of bone and joint Associated morphology False Congenital anomaly Inferred relationship Some 2
    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

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