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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
    280471000077112 anomalie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    anomalie congénitale Is a Morphologically abnormal structure false Inferred relationship Some
    anomalie congénitale Is a anomalie du développement false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Single congenital anomaly Associated morphology False anomalie congénitale Inferred relationship Some
    Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    syndrome de malformations de la fosse postérieure, hémangiomes capillaires, anomalies de l'anatomie des artères cérébrales, coarctation de l'aorte et autres malformations cardiaques, anomalies oculaires et anomalies sternales Associated morphology False anomalie congénitale Inferred relationship Some 2
    Tibial muscular dystrophy Associated morphology False anomalie congénitale Inferred relationship Some 3
    Tetrasomy 18p Associated morphology False anomalie congénitale Inferred relationship Some
    Patent vitelline duct (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 3
    Tubule of paroophoron Associated morphology False anomalie congénitale Inferred relationship Some 2
    Epoophoron Associated morphology False anomalie congénitale Inferred relationship Some 2
    Vitelline duct polyp (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 4
    Mitral valve dysplasia Associated morphology False anomalie congénitale Inferred relationship Some 2
    Developmental anomaly of vitelline duct (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 3
    Tubule of epoophoron Associated morphology False anomalie congénitale Inferred relationship Some 2
    Duct of epoophoron Associated morphology False anomalie congénitale Inferred relationship Some 2
    Paroophoron Associated morphology False anomalie congénitale Inferred relationship Some 2
    Mitral leaflet dysplasia Associated morphology False anomalie congénitale Inferred relationship Some 2
    Thyroglossal duct sinus (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Acrosyndactyly of toe Associated morphology False anomalie congénitale Inferred relationship Some 1
    Prominent renal pelvis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital prelingual deafness Associated morphology False anomalie congénitale Inferred relationship Some 3
    15q13.3 microdeletion Associated morphology False anomalie congénitale Inferred relationship Some
    Ohdo syndrome, Maat-Kievit-Brunner type Associated morphology False anomalie congénitale Inferred relationship Some 6
    A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present. Associated morphology False anomalie congénitale Inferred relationship Some 6
    1q21.1 microdeletion Associated morphology False anomalie congénitale Inferred relationship Some
    Chromosome 1p36 deletion syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some
    Chromosome 16p11.2 deletion syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    15q24 microdeletion Associated morphology False anomalie congénitale Inferred relationship Some
    A rare genetic neurodevelopmental disorder characterised by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Associated morphology False anomalie congénitale Inferred relationship Some
    A rare chromosomal anomaly characterised by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal. Associated morphology False anomalie congénitale Inferred relationship Some
    Weissenbacher-Zweymuller syndrome Associated morphology False anomalie congénitale Inferred relationship Some 4
    Weissenbacher-Zweymuller syndrome Associated morphology False anomalie congénitale Inferred relationship Some 5
    Weissenbacher-Zweymuller syndrome Associated morphology False anomalie congénitale Inferred relationship Some 6
    Ohdo syndrome, Maat-Kievit-Brunner type Associated morphology False anomalie congénitale Inferred relationship Some 7
    A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present. Associated morphology False anomalie congénitale Inferred relationship Some 7
    An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment. Associated morphology False anomalie congénitale Inferred relationship Some 3
    An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment. Associated morphology False anomalie congénitale Inferred relationship Some 4
    A form of amelogenesis imperfecta characterized by incomplete formation of the dental enamel and transmitted as an X-linked or autosomal dominant trait. Associated morphology False anomalie congénitale Inferred relationship Some 3
    Incisor that has marked lateral borders occurring lingually. Associated morphology False anomalie congénitale Inferred relationship Some 1
    Incomplete ossification of clavicle Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital hypoplasia of clavicle Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital pseudoarthrosis of clavicle (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital abnormal shape of clavicle Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital bent clavicle Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital thickening of clavicle Associated morphology False anomalie congénitale Inferred relationship Some 2
    Cleidocranial dysostosis Associated morphology False anomalie congénitale Inferred relationship Some 5
    Lack of ossification of clavicle Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital deformity of clavicle Associated morphology False anomalie congénitale Inferred relationship Some 2
    Spinal dysgenesis (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Straight back syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of spine Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital spondylolisthesis of cervical vertebra (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 4
    Congenital deformity of spine Associated morphology False anomalie congénitale Inferred relationship Some 2
    Excessive dental arch length (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    A congenital anomaly of a vertebra in which it develops characteristic(s) of the adjoining structure or region. Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital spondylolisthesis Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital absence of spine Associated morphology False anomalie congénitale Inferred relationship Some 2
    Atlanto-occipital malformation Associated morphology False anomalie congénitale Inferred relationship Some 2
    Hypoplasia of spine Associated morphology False anomalie congénitale Inferred relationship Some 4
    Congenital spondylolysis of lumbosacral region Associated morphology False anomalie congénitale Inferred relationship Some 4
    Congenital deformity of sacroiliac joint (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital double lip Associated morphology False anomalie congénitale Inferred relationship Some 2
    Subependymal nodular heterotopia (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 4
    Duane-radial ray syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 6
    Congenital anomaly of vertebral region of back Associated morphology False anomalie congénitale Inferred relationship Some 2
    Hooded penis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital gingival granular cell tumor Associated morphology False anomalie congénitale Inferred relationship Some 2
    Gingival cyst of neonate (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital epulis of newborn Associated morphology False anomalie congénitale Inferred relationship Some 3
    Oral lymphangioma Associated morphology False anomalie congénitale Inferred relationship Some 3
    Bilateral complete and incomplete cleft lip Associated morphology False anomalie congénitale Inferred relationship Some 2
    Incomplete bilateral cleft lip Associated morphology False anomalie congénitale Inferred relationship Some 2
    Microstomia Associated morphology False anomalie congénitale Inferred relationship Some 4
    Congenital ranula (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Orofacial cleft (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Cleft lip Associated morphology False anomalie congénitale Inferred relationship Some 2
    Cleft lip sequence Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital abnormality of oral cavity Associated morphology False anomalie congénitale Inferred relationship Some 2
    Bilateral cleft lip Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital phimosis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Redundant prepuce Associated morphology False anomalie congénitale Inferred relationship Some 2
    Short preputial frenulum Associated morphology False anomalie congénitale Inferred relationship Some 2
    Central cleft lip Associated morphology False anomalie congénitale Inferred relationship Some 2
    Complete bilateral cleft lip Associated morphology False anomalie congénitale Inferred relationship Some 2
    Asymmetric maxillary arch Associated morphology False anomalie congénitale Inferred relationship Some 2
    Asymmetric mandibular arch form Associated morphology False anomalie congénitale Inferred relationship Some 2
    Correction of syndactyly with skin flap Direct morphology False anomalie congénitale Inferred relationship Some 4
    Correction of syndactyly with skin flap and graft Direct morphology False anomalie congénitale Inferred relationship Some 5
    Mosaic variegated aneuploidy syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital blepharophimosis of upper eyelid Associated morphology False anomalie congénitale Inferred relationship Some 4
    Congenital blepharophimosis of lower eyelid Associated morphology False anomalie congénitale Inferred relationship Some 3
    Glanular hypospadias Associated morphology False anomalie congénitale Inferred relationship Some 4
    Coronal hypospadias Associated morphology False anomalie congénitale Inferred relationship Some 4
    Congenital hydrosalpinx Associated morphology False anomalie congénitale Inferred relationship Some 2
    Persistent omphalomesenteric artery Associated morphology False anomalie congénitale Inferred relationship Some 3
    Epoophoron cyst Associated morphology False anomalie congénitale Inferred relationship Some 2
    Repair of persistent cloaca with lengthening of vagina (procedure) Direct morphology False anomalie congénitale Inferred relationship Some 3
    Paratubal cyst arising in mesonephric duct Associated morphology False anomalie congénitale Inferred relationship Some 2
    Repair of persistent cloaca by sacroperineal approach (procedure) Direct morphology False anomalie congénitale Inferred relationship Some 2
    Repair of persistent cloaca by abdominal and sacroperineal approach (procedure) Direct morphology False anomalie congénitale Inferred relationship Some 3
    Preauricular sinus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Nonsyndromic premature fusion of multiple sutures. Associated morphology False anomalie congénitale Inferred relationship Some 6
    Nonsyndromic premature fusion of a single suture. Associated morphology False anomalie congénitale Inferred relationship Some 6

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    Reference Sets

    Concept inactivation indicator reference set

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    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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