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6081001: Deformity (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
11106012 Deformity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
799804010 Deformity (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

55 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deformity Is a Mechanical abnormality true Inferred relationship Some
Deformity Is a Abnormal shape (morphologic abnormality) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital deformity of mitral valve annulus (disorder) Associated morphology True Deformity Inferred relationship Some 1
orecchio da pipistrello Associated morphology False Deformity Inferred relationship Some 1
Congenital deformity of sacroiliac joint (disorder) Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of foot Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of toe (disorder) Associated morphology True Deformity Inferred relationship Some 1
Hemifacial myohyperplasia Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of left foot (disorder) Associated morphology True Deformity Inferred relationship Some 1
Congenital asymmetry of forehead (disorder) Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of left clavicle (disorder) Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of right clavicle (disorder) Associated morphology True Deformity Inferred relationship Some 1
Congenital keratoconus (disorder) Associated morphology True Deformity Inferred relationship Some 1
An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. The condition is most probably hereditary, transmitted as an autosomal dominant trait. Associated morphology True Deformity Inferred relationship Some 3
Congenital keratoconus posticus circumscriptus Associated morphology True Deformity Inferred relationship Some 1
Congenital bent nose (disorder) Associated morphology False Deformity Inferred relationship Some 2
Predislocation status of hip at birth Associated morphology False Deformity Inferred relationship Some 1
Choanal atresia with coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association Associated morphology False Deformity Inferred relationship Some 1
Congenital deformity of clavicle Associated morphology True Deformity Inferred relationship Some 1
Cat ear Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of right foot (disorder) Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of ankle joint Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of foot and ankle Associated morphology True Deformity Inferred relationship Some 2
Congenital deformity of foot and ankle Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of hip joint Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of labyrinth Associated morphology True Deformity Inferred relationship Some 1
oreille striée d'origine congénitale Associated morphology False Deformity Inferred relationship Some 1
Congenital positional plagiocephaly Associated morphology True Deformity Inferred relationship Some 1
Talipes valgus of bilateral feet (disorder) Associated morphology True Deformity Inferred relationship Some 2
Talipes valgus of bilateral feet (disorder) Associated morphology True Deformity Inferred relationship Some 4
Open mallet fracture of distal phalanx of index finger Associated morphology True Deformity Inferred relationship Some 3
Closed mallet fracture of distal phalanx of index finger (disorder) Associated morphology True Deformity Inferred relationship Some 2
Mallet thumb with closed tendon injury Associated morphology True Deformity Inferred relationship Some 2
Open fracture finger distal phalanx, mallet Associated morphology True Deformity Inferred relationship Some 2
Closed mallet fracture of distal phalanx of ring finger Associated morphology True Deformity Inferred relationship Some 2
Open mallet fracture of distal phalanx of little finger Associated morphology True Deformity Inferred relationship Some 2
Open mallet fracture of distal phalanx of middle finger Associated morphology True Deformity Inferred relationship Some 2
Open fracture thumb distal phalanx, mallet Associated morphology True Deformity Inferred relationship Some 2
Closed fracture finger distal phalanx, mallet Associated morphology True Deformity Inferred relationship Some 2
Closed fracture thumb distal phalanx, mallet Associated morphology True Deformity Inferred relationship Some 2
Closed mallet fracture of distal phalanx of little finger (disorder) Associated morphology True Deformity Inferred relationship Some 2
Open mallet fracture of distal phalanx of ring finger Associated morphology False Deformity Inferred relationship Some 3
A rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces. Associated morphology False Deformity Inferred relationship Some 3
A rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces. Associated morphology False Deformity Inferred relationship Some 2
Talipes valgus of left foot (disorder) Associated morphology True Deformity Inferred relationship Some 2
Talipes valgus of right foot (disorder) Associated morphology True Deformity Inferred relationship Some 2
Pellucid marginal degeneration of cornea of bilateral eyes (disorder) Associated morphology False Deformity Inferred relationship Some 1
Pellucid marginal degeneration of cornea of bilateral eyes (disorder) Associated morphology False Deformity Inferred relationship Some 2
Pellucid marginal degeneration of cornea of left eye Associated morphology False Deformity Inferred relationship Some 1
Pellucid marginal degeneration of cornea of right eye (disorder) Associated morphology False Deformity Inferred relationship Some 1
Congenital blepharophimosis of upper eyelid Associated morphology False Deformity Inferred relationship Some 2
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi Associated morphology False Deformity Inferred relationship Some 2
Acquired supination deformity of foot Associated morphology False Deformity Inferred relationship Some 1
supination acquise de l'avant-pied Associated morphology False Deformity Inferred relationship Some 1
Acquired cauliflower ear of right pinna Associated morphology True Deformity Inferred relationship Some 1
Congenital contracted pelvis Associated morphology True Deformity Inferred relationship Some 1
Acquired pronation deformity of right ankle Associated morphology False Deformity Inferred relationship Some 1
déformation de la cheville en pronation acquise bilatérale Associated morphology False Deformity Inferred relationship Some 2
déformation de la cheville en pronation acquise bilatérale Associated morphology False Deformity Inferred relationship Some 1
Acquired pronation deformity of left ankle Associated morphology False Deformity Inferred relationship Some 1
Acquired pronation deformity of ankle Associated morphology False Deformity Inferred relationship Some 1
Outlet pelvic contraction - delivered Associated morphology False Deformity Inferred relationship Some 3
contraction des muscles du détroit inférieur avec problème prénatal Associated morphology False Deformity Inferred relationship Some 3
Outlet contraction of pelvis Associated morphology True Deformity Inferred relationship Some 3
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. Associated morphology True Deformity Inferred relationship Some 4
Acute hydrops keratoconus of right eye (disorder) Associated morphology True Deformity Inferred relationship Some 3
Acute hydrops keratoconus of left eye (disorder) Associated morphology True Deformity Inferred relationship Some 3
Inlet pelvic contraction - delivered Associated morphology False Deformity Inferred relationship Some 2
Blepharophimosis syndrome Associated morphology False Deformity Inferred relationship Some 2
Congenital blepharophimosis of lower eyelid Associated morphology False Deformity 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 True Deformity Inferred relationship Some 4
rétrécissement du détroit pelvien supérieur avec problème prénatal Associated morphology False Deformity Inferred relationship Some 2
Ohdo syndrome, Maat-Kievit-Brunner type Associated morphology True Deformity Inferred relationship Some 2
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 True Deformity Inferred relationship Some 2
Open mallet fracture of distal phalanx of little finger of right hand (disorder) Associated morphology False Deformity Inferred relationship Some 3
Open mallet fracture of distal phalanx of middle finger of right hand (disorder) Associated morphology False Deformity Inferred relationship Some 3
Open mallet fracture of distal phalanx of index finger of left hand Associated morphology True Deformity Inferred relationship Some 3
Open mallet fracture of distal phalanx of middle finger of left hand (disorder) Associated morphology False Deformity Inferred relationship Some 3
Open mallet fracture of distal phalanx of ring finger of left hand (disorder) Associated morphology False Deformity Inferred relationship Some 3
Open mallet fracture of distal phalanx of ring finger of right hand Associated morphology False Deformity Inferred relationship Some 3
Open mallet fracture of distal phalanx of index finger of right hand (disorder) Associated morphology True Deformity Inferred relationship Some 3
Bilateral deformity of hands due to rheumatoid arthritis Associated morphology True Deformity Inferred relationship Some 1
Bilateral deformity of hands due to rheumatoid arthritis Associated morphology True Deformity Inferred relationship Some 2
Bilateral deformity of wrists due to rheumatoid arthritis Associated morphology True Deformity Inferred relationship Some 1
Bilateral deformity of wrists due to rheumatoid arthritis Associated morphology True Deformity Inferred relationship Some 2
Bilateral deformity of feet due to rheumatoid arthritis Associated morphology True Deformity Inferred relationship Some 1
Bilateral deformity of feet due to rheumatoid arthritis Associated morphology True Deformity Inferred relationship Some 2
On examination - fixed joint deformity Associated morphology False Deformity Inferred relationship Some 1
avant-pied pronateur acquis Associated morphology False Deformity Inferred relationship Some 1
Closed mallet fracture of distal phalanx of middle finger of left hand Associated morphology False Deformity Inferred relationship Some 3
Closed mallet fracture of distal phalanx of middle finger of right hand (disorder) Associated morphology False Deformity Inferred relationship Some 3
Fetal postural deformity Associated morphology True Deformity Inferred relationship Some 1
Congenital anterior staphyloma Associated morphology False Deformity Inferred relationship Some 1
Joint deformity Associated morphology True Deformity Inferred relationship Some 1
Arm length inequality Associated morphology True Deformity Inferred relationship Some 1
Ulnar deviation of the thumb (finding) Associated morphology False Deformity Inferred relationship Some 1
Multiple joint deformity Associated morphology True Deformity Inferred relationship Some 1
Elbow joint deformity Associated morphology True Deformity Inferred relationship Some 1
Increased carrying angle of elbow joint Associated morphology True Deformity Inferred relationship Some 1
Thumb joint deformity Associated morphology True Deformity Inferred relationship Some 1
Toe joint deformity Associated morphology True Deformity Inferred relationship Some 1
Acquired cauliflower ear of left pinna (disorder) Associated morphology True Deformity Inferred relationship Some 1
Congenital leg length discrepancy (disorder) Associated morphology True Deformity Inferred relationship Some 1

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