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422977003: Congenital anomaly of tooth (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2007. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2641336015 Congenital anomaly of tooth (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2645418014 Congenital anomaly of tooth en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3006572017 Congenital malformation of tooth en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5834631000241117 malformation dentaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5834641000241110 anomalie congénitale d'une dent fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

158 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of tooth (disorder) Is a Tooth disorder false Inferred relationship Some
Congenital anomaly of tooth (disorder) Is a Congenital abnormality of oral cavity true Inferred relationship Some
Congenital anomaly of tooth (disorder) Is a Congenital anomaly of digestive organ (disorder) true Inferred relationship Some
Congenital anomaly of tooth (disorder) Is a Congenital anomaly of jaw false Inferred relationship Some
Congenital anomaly of tooth (disorder) Finding site Tooth structure false Inferred relationship Some 1
Congenital anomaly of tooth (disorder) Occurrence Congenital false Inferred relationship Some
Congenital anomaly of tooth (disorder) Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of tooth (disorder) Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of tooth (disorder) Finding site Tooth structure true Inferred relationship Some 1
Congenital anomaly of tooth (disorder) Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of tooth (disorder) Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital anomaly of tooth (disorder) Is a Congenital anomaly of jaw true Inferred relationship Some
Congenital anomaly of tooth (disorder) Finding site Tooth structure false Inferred relationship Some 2
Congenital anomaly of tooth (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of tooth (disorder) Is a Developmental anomaly of tooth false Inferred relationship Some
Congenital anomaly of tooth (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of tooth (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of tooth (disorder) Is a Disorder of tooth development (disorder) false Inferred relationship Some
Congenital anomaly of tooth (disorder) Is a Malformation of tooth (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Turner's tooth Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
Dentinogenesis imperfecta Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
Odontogenesis imperfecta Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
Moon's molar teeth Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Exaggerated cusp of tooth Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Exaggerated cingulum of tooth Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Absence of teeth as a result of impaction, delayed eruption, exfoliation or extraction. Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Congenital absence of one tooth Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Supernumerary deciduous tooth Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Duplication of teeth Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Enamel spur Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Dentin dysplasia Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
Dentin dysplasia, type II Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Protrusion of tooth (finding) Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Precocious exfoliation due to ectopic eruption of proximate tooth (disorder) Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Precocious exfoliation of teeth due to idiopathic root resorption (disorder) Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Precocious exfoliation of teeth due to root resorption following trauma (disorder) Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Hyperplastic tooth follicle Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Supernumerary cusp Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Horner's teeth (disorder) Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Supernumerary roots Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Congenital anomaly in number of teeth (disorder) Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
Embedded tooth Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
Fusion of teeth Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Natal tooth Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Anomaly of dental arch (disorder) Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Peg-shaped teeth Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Microdontia Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Concrescence of teeth Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Hypoplasia of cementum Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
Enamel pearls Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Papillon-Lefèvre syndrome Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Taurodontism Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Dens evaginatus Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Cleidocranial dysostosis Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
Regional odontodysplasia Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Shell teeth Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Horizontal overbite Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Xeroderma, talipes and enamel defect syndrome (disorder) Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Macrodontia Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Amelogenesis imperfecta Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
Anomaly of tooth position Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Mottled teeth, congenital Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Color changes during tooth formation Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Hutchinson's teeth Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Generalized macrodontia Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Malformation of tooth (disorder) Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Crossbite Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Abnormal root proximity between adjacent teeth Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Diastema of teeth Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Impacted incisors Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Impacted premolars Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Impacted molars Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Crowding of teeth Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Ectopic tooth (disorder) Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Rotation of tooth Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Dens in dente Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Reverse position of adjacent teeth (disorder) Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Supernumerary tooth (disorder) Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Nance-Horan syndrome (disorder) Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
Incisor that has marked lateral borders occurring lingually. Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
Supernumerary deciduous tooth Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Solitary median maxillary central incisor syndrome Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
Globodontia (disorder) Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Hypoplasia of first permanent molar tooth (disorder) Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
Localized hypoplasia of tooth (disorder) Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
A rare ectodermal dysplasia syndrome characterized by neonatal teeth, trichodystrophy (with straw-like, discolored and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997. Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973. Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two siblings and characterised by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit. Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996. Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986. Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed. Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985. Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed. Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983. Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Lateral accessory root canals Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Dental midlines coincident and incorrect Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977. Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
A rare syndromic craniosynostosis characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported. Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
A rare, genetic, syndromic dysostosis characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (including misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia. Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome. Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999. Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported. Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported. Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Radicular cyst Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
Intrinsic enamel discoloration of erythroblastosis fetalis Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
Hutchinson's triad Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
Ectodermal dysplasia with hair-tooth defects Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
Ectodermal dysplasia with tooth-nail defects Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
Ectodermal dysplasia with tooth-sweating defect Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
Pre-eruptive color change of tooth Is a False Congenital anomaly of tooth (disorder) Inferred relationship Some
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. Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies. Is a True Congenital anomaly of tooth (disorder) Inferred relationship Some

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