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276655000: Congenital deformity (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
412906014 Congenital deformity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
669596019 Congenital deformity (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
23461000077113 anomalie morphologique congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

635 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital deformity Is a Congenital disease false Inferred relationship Some
Congenital deformity Occurrence Congenital false Inferred relationship Some
Congenital deformity Associated morphology Congenital deformity false Inferred relationship Some
Congenital deformity Is a Congenital malformation true Inferred relationship Some
Congenital deformity Is a Deformity (finding) true Inferred relationship Some
Congenital deformity Occurrence Congenital true Inferred relationship Some 1
Congenital deformity Associated morphology Deformity true Inferred relationship Some 1
Congenital deformity Associated morphology Congenital deformity false Inferred relationship Some 1
Congenital deformity Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Fetal postural deformity Is a False Congenital deformity Inferred relationship Some
Specified intrauterine postural deformity NEC Is a False Congenital deformity Inferred relationship Some
Congenital deformity of sacroiliac joint (disorder) Is a False Congenital deformity Inferred relationship Some
Congenital deformity of spine Is a True Congenital deformity Inferred relationship Some
Congenital deformity of pinna Is a True Congenital deformity Inferred relationship Some
Congenital deformity of labyrinth Is a True Congenital deformity Inferred relationship Some
Congenital deformity of hip joint Is a False Congenital deformity Inferred relationship Some
Congenital deformity of ankle joint Is a False Congenital deformity Inferred relationship Some
Congenital deformity of foot Is a False Congenital deformity Inferred relationship Some
Congenital deformity of forehead Is a False Congenital deformity Inferred relationship Some
Congenital hyperextension of limb Is a False Congenital deformity Inferred relationship Some
Congenital hyperflexion of limb Is a False Congenital deformity Inferred relationship Some
Congenital deformity of face (disorder) Is a True Congenital deformity Inferred relationship Some
Congenital deformity of clavicle Is a False Congenital deformity Inferred relationship Some
Congenital deformity of lumbosacral region Is a True Congenital deformity Inferred relationship Some
déformation en hyperextension du genou Is a False Congenital deformity Inferred relationship Some
Congenital hammer toe Is a False Congenital deformity Inferred relationship Some
Congenital deformity of foot and ankle Is a False Congenital deformity Inferred relationship Some
déformation causée par une bride amniotique Is a False Congenital deformity Inferred relationship Some
Congenital deformity of scapula (disorder) Is a False Congenital deformity Inferred relationship Some
Congenital deformity of pharynx (disorder) Is a True Congenital deformity Inferred relationship Some
Congenital pectus carinatum Is a False Congenital deformity Inferred relationship Some
Congenital pectus excavatum (disorder) Is a False Congenital deformity Inferred relationship Some
Congenital deformity of mitral valve annulus (disorder) Is a False Congenital deformity Inferred relationship Some
Congenital elongation of innominate artery Is a False Congenital deformity Inferred relationship Some
Congenital lordosis/scoliosis Is a False Congenital deformity Inferred relationship Some
incurvation posturale congénitale de la colonne vertébrale Is a False Congenital deformity Inferred relationship Some
Congenital keratoglobus Is a False Congenital deformity Inferred relationship Some
Congenital shortening of tendon Is a False Congenital deformity Inferred relationship Some
Arachnodactyly Is a True Congenital deformity Inferred relationship Some
Congenital short hard palate Is a True Congenital deformity Inferred relationship Some
Congenital depression in skull Is a False Congenital deformity Inferred relationship Some
Congenital deformity of knee joint Is a False Congenital deformity Inferred relationship Some
Skull congenital deformities Is a False Congenital deformity Inferred relationship Some
Congenital deformity of chest wall Is a True Congenital deformity Inferred relationship Some
Thumb in palm deformity Is a False Congenital deformity Inferred relationship Some
Congenital flat back deformity (disorder) Is a True Congenital deformity Inferred relationship Some
Congenital hyperextension of limb Is a True Congenital deformity Inferred relationship Some
Congenital hyperflexion of limb Is a True Congenital deformity Inferred relationship Some
An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. Is a False Congenital deformity Inferred relationship Some
Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. Is a False Congenital deformity Inferred relationship Some
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. Is a False Congenital deformity Inferred relationship Some
Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. Is a False Congenital deformity Inferred relationship Some
Congenital keratoconus (disorder) Is a True Congenital deformity Inferred relationship Some
Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972. Is a False Congenital deformity Inferred relationship Some
A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966. Is a False Congenital deformity Inferred relationship Some
Congenital bent ulna Is a False Congenital deformity Inferred relationship Some
Congenital leg bone bowing Is a False Congenital deformity Inferred relationship Some
Congenital angulation of tibia Is a False Congenital deformity Inferred relationship Some
Congenital chordee Is a True Congenital deformity Inferred relationship Some
Congenital clinodactyly Is a True Congenital deformity Inferred relationship Some
Cornea plana Is a True Congenital deformity Inferred relationship Some
Congenital lateral curvature of penis Is a False Congenital deformity Inferred relationship Some
Congenital bent humerus Is a False Congenital deformity Inferred relationship Some
Congenital bent hyoid bone Is a False Congenital deformity Inferred relationship Some
Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. Is a False Congenital deformity Inferred relationship Some
Congenital bent ilium Is a False Congenital deformity Inferred relationship Some
Congenital bent ischium Is a False Congenital deformity Inferred relationship Some
Congenital bent pubis Is a False Congenital deformity Inferred relationship Some
Congenital bent radius Is a False Congenital deformity Inferred relationship Some
Congenital deformity of right hand (disorder) Is a False Congenital deformity Inferred relationship Some
Dolichocolon Is a True Congenital deformity Inferred relationship Some
Pili torti Is a False Congenital deformity Inferred relationship Some
Bilateral congenital retroversion of femurs Is a False Congenital deformity Inferred relationship Some
Brachydactyly Is a False Congenital deformity Inferred relationship Some
Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. Is a False Congenital deformity Inferred relationship Some
Longitudinal deficiency of upper limb Is a False Congenital deformity Inferred relationship Some
Manus valga Is a False Congenital deformity Inferred relationship Some
Congenital short urethra Is a True Congenital deformity Inferred relationship Some
A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome. Is a False Congenital deformity Inferred relationship Some
A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. Is a False Congenital deformity Inferred relationship Some
MEDNIK-Syndrom Is a False Congenital deformity Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. Is a False Congenital deformity Inferred relationship Some
Manus plana Is a False Congenital deformity Inferred relationship Some
Congenital deformity of left hand (disorder) Is a False Congenital deformity Inferred relationship Some
Congenital short trunk Is a True Congenital deformity Inferred relationship Some
Dolichocephalic dwarfism Is a False Congenital deformity Inferred relationship Some
Congenital short growth of innominate artery Is a False Congenital deformity Inferred relationship Some
Congenital plagiocephaly with pelvic obliquity (disorder) Is a False Congenital deformity Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder. Is a False Congenital deformity Inferred relationship Some
Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including trident aspect of the acetabula and metaphyseal changes. Is a False Congenital deformity Inferred relationship Some
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (including larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (especially of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal. Is a False Congenital deformity Inferred relationship Some
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. Is a False Congenital deformity Inferred relationship Some
Congenital short esophagus (disorder) Is a True Congenital deformity Inferred relationship Some
Congenital redundant colon Is a True Congenital deformity Inferred relationship Some
Camptodactyly Is a False Congenital deformity Inferred relationship Some
Longitudinal deficiency of part of upper limb (disorder) Is a False Congenital deformity Inferred relationship Some
Longitudinal deficiency of lower limb Is a False Congenital deformity Inferred relationship Some
Vascular ring with malrotation and dextroversion of heart and hypoplasia of right lung and left arterial duct (disorder) Is a True Congenital deformity Inferred relationship Some
Rhizomelic chondrodysplasia punctata syndrome Is a False Congenital deformity Inferred relationship Some
A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. Is a False Congenital deformity Inferred relationship Some
Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983. Is a False Congenital deformity Inferred relationship Some
Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown aetiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhoea, vomiting and failure to thrive. Is a True Congenital deformity Inferred relationship Some
Congenital varus ankle Is a False Congenital deformity Inferred relationship Some
An extremely rare polymalformative syndrome. Is a False Congenital deformity Inferred relationship Some
A rare thoracic malformation characterized by fixation of the scapula to the first rib by a congenitally short costocoracoid ligament, leading to limited rotation or retraction of the scapula, as well as rounding of the shoulders and loss of the anterior clavicular contour. There have been no further descriptions in the literature since 1989. Is a False Congenital deformity Inferred relationship Some
Manus vara Is a False Congenital deformity Inferred relationship Some
Congenital inversion of nipple Is a True Congenital deformity Inferred relationship Some
Increased anogenital distance (disorder) Is a True Congenital deformity Inferred relationship Some
Congenital humeral varus Is a False Congenital deformity Inferred relationship Some
Congenital undergrowth of partial lower limb Is a False Congenital deformity Inferred relationship Some

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