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31739005: Lateral abnormal curvature (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
53028019 Lateral abnormal curvature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
762942013 Lateral abnormal curvature (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lateral abnormal curvature Is a Abnormal curvature true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Idiopathic scoliosis of thoracic spine with double curve (disorder) Associated morphology True Lateral abnormal curvature Inferred relationship Some 2
Congenital scoliosis due to bony malformation Associated morphology True Lateral abnormal curvature Inferred relationship Some 2
Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal. Associated morphology True Lateral abnormal curvature Inferred relationship Some 3
Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. Associated morphology True Lateral abnormal curvature Inferred relationship Some 4
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. Associated morphology False Lateral abnormal curvature Inferred relationship Some 7
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis. Associated morphology False Lateral abnormal curvature Inferred relationship Some 10
A rare genetic disease characterized by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal. Associated morphology False Lateral abnormal curvature Inferred relationship Some 8
Neuromuscular scoliosis co-occurrent and due to cerebral palsy (disorder) Associated morphology True Lateral abnormal curvature Inferred relationship Some 2
Thoracogenic kyphoscoliosis Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. Associated morphology True Lateral abnormal curvature Inferred relationship Some 4
A rare genetic disease characterized by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal. Associated morphology True Lateral abnormal curvature Inferred relationship Some 3
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis. Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
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. Associated morphology True Lateral abnormal curvature Inferred relationship Some 3
Adolescent idiopathic scoliosis of thoracolumbar spine (disorder) Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Adolescent idiopathic scoliosis of thoracolumbar spine (disorder) Associated morphology True Lateral abnormal curvature Inferred relationship Some 2
Adolescent idiopathic scoliosis of thoracic spine Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Adolescent idiopathic scoliosis of lumbar spine Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. Associated morphology False Lateral abnormal curvature Inferred relationship Some 5
Infantile idiopathic scoliosis of cervical spine Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Degenerative kyphoscoliosis Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Scoliotic angulation of ribs Associated morphology True Lateral abnormal curvature Inferred relationship Some 2
Scoliosis deformity of spine due to epiphysiopathy Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Adolescent idiopathic scoliosis of cervical spine (disorder) Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology True Lateral abnormal curvature Inferred relationship Some 4
A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. Associated morphology True Lateral abnormal curvature Inferred relationship Some 4
Scoliosis due to and following infection Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Scoliosis due to and following traumatic injury (disorder) Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Osteoporotic scoliosis Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
A rare complex hereditary spastic paraplegia characterized by neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement. Associated morphology True Lateral abnormal curvature Inferred relationship Some 2
Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects. Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Congenital lordosis and scoliosis deformity of spine (disorder) Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Thoracogenic scoliosis of thoracolumbar spine Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Thoracogenic scoliosis of thoracolumbar spine Associated morphology True Lateral abnormal curvature Inferred relationship Some 2
Thoracogenic scoliosis of thoracic spine (disorder) Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Neuromuscular scoliosis of lumbar spine Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Neuromuscular scoliosis of thoracic spine Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Neuromuscular scoliosis of cervicothoracic spine (disorder) Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Neuromuscular scoliosis of cervicothoracic spine (disorder) Associated morphology True Lateral abnormal curvature Inferred relationship Some 2
Neuromuscular scoliosis of thoracolumbar spine Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Neuromuscular scoliosis of thoracolumbar spine Associated morphology True Lateral abnormal curvature Inferred relationship Some 2
Infantile idiopathic scoliosis of lumbar spine (disorder) Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Infantile idiopathic scoliosis of thoracic spine Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Infantile idiopathic scoliosis of cervicothoracic spine Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Infantile idiopathic scoliosis of cervicothoracic spine Associated morphology True Lateral abnormal curvature Inferred relationship Some 2
Infantile idiopathic scoliosis of thoracolumbar spine Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Infantile idiopathic scoliosis of thoracolumbar spine Associated morphology True Lateral abnormal curvature Inferred relationship Some 2
Juvenile idiopathic scoliosis of thoracolumbar spine (disorder) Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Juvenile idiopathic scoliosis of thoracolumbar spine (disorder) Associated morphology True Lateral abnormal curvature Inferred relationship Some 2
Juvenile idiopathic scoliosis of thoracic spine Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B3GALT6 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalized osteoporosis), joint contractures and ascending aortic aneurysm. Associated morphology True Lateral abnormal curvature Inferred relationship Some 3
Adult degenerative scoliosis deformity of spine (disorder) Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
A rare primary bone dysplasia characterized by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal. Associated morphology True Lateral abnormal curvature Inferred relationship Some 2
Neuromuscular scoliosis of cervical and thoracic spine due to and following poliomyelitis (disorder) Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Neuromuscular scoliosis of cervical and thoracic spine due to and following poliomyelitis (disorder) Associated morphology True Lateral abnormal curvature Inferred relationship Some 2
Neuromuscular scoliosis due to and following poliomyelitis (disorder) Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Thoracolumbar neuromuscular scoliosis due to and following poliomyelitis Associated morphology True Lateral abnormal curvature Inferred relationship Some 1
Thoracolumbar neuromuscular scoliosis due to and following poliomyelitis Associated morphology True Lateral abnormal curvature Inferred relationship Some 2

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