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1344689004: Congenital deformity of musculoskeletal system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Aug 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5385538018 Congenital deformity of musculoskeletal system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5385539014 Congenital deformity of musculoskeletal system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

284 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital deformity of musculoskeletal system (disorder) Is a Congenital deformity true Inferred relationship Some
Congenital deformity of musculoskeletal system (disorder) Is a Congenital anomaly of musculoskeletal system true Inferred relationship Some
Congenital deformity of musculoskeletal system (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital deformity of musculoskeletal system (disorder) Finding site Structure of musculoskeletal system (body structure) true Inferred relationship Some 1
Congenital deformity of musculoskeletal system (disorder) Associated morphology Deformity true Inferred relationship Some 1
Congenital deformity of musculoskeletal system (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital hallux varus Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital contracted pelvis Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Lethal multiple pterygium syndrome Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital deformity of knee joint Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital hammer toe Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Rhizomelic chondrodysplasia punctata syndrome Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Longitudinal deficiency of femur Is a False Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital hallux valgus Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Manus valga Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital depression in skull Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Longitudinal deficiency of carpal bone Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital shortening of tendon Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Manus vara Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Longitudinal deficiency of humerus Is a False Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital deformity of sacroiliac joint (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital deformity of hip joint Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Longitudinal deficiency of tibia AND/OR fibula Is a False Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Thumb in palm deformity Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital humeral varus Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital curly toes Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital rearfoot valgus Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital forefoot valgus Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital lordosis/scoliosis Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital cubitus varus Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital deformity of ankle joint Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital angulation of tibia Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital deformity of clavicle Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital deformity of lumbosacral joint Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Brachyphalangia Is a False Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital contracture of gastrocnemius muscle (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital deformity of scapula (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Longitudinal deficiency of tarsal bone Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Longitudinal deficiency of metacarpal bone Is a False Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Longitudinal deficiency of fibula Is a False Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Brachymetatarsia Is a False Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital claw toe Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Skull congenital deformities Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital pectus excavatum (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
A rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984. Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital pectus carinatum Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital crossed toes Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital leg bone bowing Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Long narrow head Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988. Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992. Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. Is a True Congenital deformity of musculoskeletal system (disorder) 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 True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Metatarsus adductus Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital coxa valga Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital coxa vara Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital mallet toe (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) 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 True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital varus ankle Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital valgus ankle Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital bowing of long bone (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital hallux valgus of left great toe (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital hallux valgus of right great toe (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital postural scoliosis Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital plagiocephaly with pelvic obliquity (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital positional plagiocephaly Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital bent humerus Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital bent hyoid bone Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital bent ilium Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital bent ischium Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital bent pubis Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital bent rib Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital metatarsus valgus Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992. Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Talipes valgus of left foot (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Talipes valgus of right foot (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. Is a False Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
A congenital malformation characterised by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait. Is a False Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital kyphosis Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Camptodactyly Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital deformity of bone of forearm (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype. Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital lordosis deformity of spine (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others. Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital deformity of bony orbit Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital expansion of orbit Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital combined bony and soft tissue deformity of orbit (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital contraction of orbit Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Persistent congenital anteversion of femur (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases. Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Plantarflexed cuboid Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe brain malformations associated with cerebral parenchymal underdevelopment, arthrogryposis and club feet due to mutations in KIAA1109 gene. Majority of the cases are early lethal. Milder cases may present with severe global developmental delay, intellectual disability, microcephaly, hydrocephaly, heart defects, renal problems, severe muscle hypotonia causing incapacity to stand without a support, epilepsy, syndactyly and variable dysmorphic facial features (including hypotelorism, hypertelorism, small eyes, low-set and posteriorly rotated ears, short nose, flattened nasal bridge, anteverted nares, retrognathia). Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital clinodactyly of distal phalanx of little finger (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital dolichostenomelia Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Abnormally short ilium (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Abnormally short long bone (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Abnormally short great toe (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Abnormally short ramus of mandible (disorder) Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some
Congenital deformity of sternocleidomastoid muscle Is a True Congenital deformity of musculoskeletal system (disorder) Inferred relationship Some

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