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289959001: Musculoskeletal structure of spine (body structure)

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
429920016 Musculoskeletal structure of spine en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
684463014 Musculoskeletal structure of spine (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1855 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Musculoskeletal structure of spine Is a Spinal structure false Inferred relationship Some
Musculoskeletal structure of spine partie de Entire axial skeleton false Additional relationship Some
Musculoskeletal structure of spine partie de Entire trunk false Inferred relationship Some
Musculoskeletal structure of spine partie de Entire back (surface region) false Additional relationship Some
Musculoskeletal structure of spine Is a Structure of regional musculoskeletal system (body structure) true Inferred relationship Some
Musculoskeletal structure of spine Is a Structure of vertebral region of back false Inferred relationship Some
Musculoskeletal structure of spine Is a Structure of vertebral column (body structure) false Inferred relationship Some
Musculoskeletal structure of spine Is a This volume includes the spinal column, its spaces and contents, notably the spinal canal, spinal meninges and spinal cord. It also includes the muscles associated with the spine within (and including) the anterior and posterior thoracolumbar fascia and its equivalent nuchal fascia in the neck. This region also includes the spinal ventral (anterior) and dorsal (posterior) roots, the dorsal root (spinal) ganglions and the spinal nerve trunks. true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
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. Finding site True Musculoskeletal structure of spine Inferred relationship Some 3
Brachyrachia (short spine dysplasia) Finding site False Musculoskeletal structure of spine Inferred relationship Some 1
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. Finding site True Musculoskeletal structure of spine Inferred relationship Some 1
MEDNIK-Syndrom Finding site False Musculoskeletal structure of spine Inferred relationship Some 2
Brachyolmia - Hobaek type Finding site False Musculoskeletal structure of spine Inferred relationship Some 2
Brachyolmia - Maroteaux type (disorder) Finding site False Musculoskeletal structure of spine Inferred relationship Some 2
Brachyolmia type 1 Toledo type Finding site False Musculoskeletal structure of spine Inferred relationship Some 2
An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. Finding site False Musculoskeletal structure of spine Inferred relationship Some 2
A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterised by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. Finding site False Musculoskeletal structure of spine Inferred relationship Some 2
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. Finding site True Musculoskeletal structure of spine Inferred relationship Some 3
Kyphosis of cervicothoracic spine (disorder) Finding site False Musculoskeletal structure of spine 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. Finding site False Musculoskeletal structure of spine Inferred relationship Some 5
Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. Finding site False Musculoskeletal structure of spine Inferred relationship Some 2
Degenerative kyphosis Finding site True Musculoskeletal structure of spine Inferred relationship Some 1
Degenerative kyphoscoliosis Finding site True Musculoskeletal structure of spine 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. Finding site True Musculoskeletal structure of spine Inferred relationship Some 4
Deep muscle of back Is a True Musculoskeletal structure of spine Inferred relationship Some
Scoliotic angulation of ribs Finding site True Musculoskeletal structure of spine Inferred relationship Some 2
Manipulation of the cervical spine Procedure site - Direct (attribute) True Musculoskeletal structure of spine Inferred relationship Some 2
Manipulation of spine Procedure site - Direct (attribute) True Musculoskeletal structure of spine Inferred relationship Some 1
Nonsurgical manipulation of sacroiliac joint (procedure) Procedure site - Direct (attribute) False Musculoskeletal structure of spine Inferred relationship Some 1
Manipulation of cervical spine under anaesthetic Procedure site - Direct (attribute) True Musculoskeletal structure of spine Inferred relationship Some 2
Nonsurgical manipulation of cervical spine (procedure) Procedure site - Direct (attribute) False Musculoskeletal structure of spine Inferred relationship Some 2
Scoliosis deformity of spine due to epiphysiopathy Finding site True Musculoskeletal structure of spine Inferred relationship Some 1
Kyphosis deformity of spine due to epiphysiopathy Finding site True Musculoskeletal structure of spine Inferred relationship Some 1
Lordosis deformity of spine due to epiphysiopathy (disorder) Finding site True Musculoskeletal structure of spine Inferred relationship Some 1
Manipulation of spine using traction Procedure site - Direct (attribute) True Musculoskeletal structure of spine Inferred relationship Some 2
Manipulation of spine using traction Procedure site - Direct (attribute) True Musculoskeletal structure of spine Inferred relationship Some 1
Rotational deformity of spine Finding site True Musculoskeletal structure of spine Inferred relationship Some 1
Surgical spinal manipulation Procedure site - Direct (attribute) True Musculoskeletal structure of spine Inferred relationship Some 1
Entire musculoskeletal structure of spine Is a True Musculoskeletal structure of spine Inferred relationship Some
Ehlers-Danlos syndrome, hydroxylysine-deficient Finding site True Musculoskeletal structure of spine 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. Finding site True Musculoskeletal structure of spine Inferred relationship Some 4
Lordosis deformity of spine due to and following infection (disorder) Finding site True Musculoskeletal structure of spine Inferred relationship Some 1
Lordosis deformity of spine due to osteoporosis of vertebra Finding site True Musculoskeletal structure of spine Inferred relationship Some 1
Lordosis deformity of spine due to muscular imbalance (disorder) Finding site True Musculoskeletal structure of spine Inferred relationship Some 1
Scoliosis due to and following infection Finding site True Musculoskeletal structure of spine Inferred relationship Some 1
Scoliosis due to and following traumatic injury (disorder) Finding site True Musculoskeletal structure of spine Inferred relationship Some 1
Osteoporotic scoliosis Finding site True Musculoskeletal structure of spine Inferred relationship Some 1
Lordosis deformity of spine due to and following traumatic injury (disorder) Finding site True Musculoskeletal structure of spine Inferred relationship Some 1
Post-traumatic kyphosis Finding site True Musculoskeletal structure of spine Inferred relationship Some 1
Lordosis deformity of spine caused by radiation Finding site True Musculoskeletal structure of spine Inferred relationship Some 1
Kyphosis due to and following infection Finding site True Musculoskeletal structure of spine 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. Finding site True Musculoskeletal structure of spine 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. Finding site True Musculoskeletal structure of spine Inferred relationship Some 1
Lordosis deformity of spine following excision of lamina of vertebra Finding site True Musculoskeletal structure of spine Inferred relationship Some 3
Lordosis deformity of spine following surgical procedure Finding site True Musculoskeletal structure of spine Inferred relationship Some 3
Congenital lordosis deformity of spine due to congenital malformation of skeletal bone (disorder) Finding site True Musculoskeletal structure of spine Inferred relationship Some 1
Congenital lordosis deformity of spine (disorder) Finding site True Musculoskeletal structure of spine Inferred relationship Some 1
Congenital lordosis and scoliosis deformity of spine (disorder) Finding site True Musculoskeletal structure of spine Inferred relationship Some 1
Congenital lordosis and scoliosis deformity of spine (disorder) Finding site True Musculoskeletal structure of spine Inferred relationship Some 2
Lordosis deformity of spine due to disorder of hip region Finding site True Musculoskeletal structure of spine Inferred relationship Some 1
Lordosis deformity of spine due to congenital skeletal dysplasia Finding site True Musculoskeletal structure of spine Inferred relationship Some 1
Structure of periosteum of vertebra Is a True Musculoskeletal structure of spine Inferred relationship Some
Ehlers-Danlos syndrome, hydroxylysine-deficient Finding site True Musculoskeletal structure of spine Inferred relationship Some 5
Congenital kyphoscoliosis (disorder) Finding site True Musculoskeletal structure of spine Inferred relationship Some 2
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. Finding site True Musculoskeletal structure of spine 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. Finding site True Musculoskeletal structure of spine Inferred relationship Some 7
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. Finding site True Musculoskeletal structure of spine Inferred relationship Some 5
Idiopathic kyphoscoliosis Finding site True Musculoskeletal structure of spine Inferred relationship Some 2
Neuromuscular kyphoscoliosis Finding site True Musculoskeletal structure of spine Inferred relationship Some 2
Degenerative kyphoscoliosis Finding site True Musculoskeletal structure of spine Inferred relationship Some 3
Kyphoscoliosis deformity of spine (disorder) Finding site True Musculoskeletal structure of spine Inferred relationship Some 2
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. Finding site True Musculoskeletal structure of spine Inferred relationship Some 5
A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects. Finding site True Musculoskeletal structure of spine Inferred relationship Some 4
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. Finding site True Musculoskeletal structure of spine Inferred relationship Some 3
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. Finding site True Musculoskeletal structure of spine Inferred relationship Some 6
Adult degenerative scoliosis deformity of spine (disorder) Finding site True Musculoskeletal structure of spine 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. Finding site True Musculoskeletal structure of spine Inferred relationship Some 2
Flattened lordosis Finding site True Musculoskeletal structure of spine Inferred relationship Some 1
Correction of scoliosis Procedure site - Direct (attribute) True Musculoskeletal structure of spine Inferred relationship Some 1
Neuromuscular scoliosis due to and following poliomyelitis (disorder) Finding site True Musculoskeletal structure of spine Inferred relationship Some 1
Nonsurgical manipulation of musculoskeletal structure of spine (procedure) Procedure site - Direct (attribute) True Musculoskeletal structure of spine Inferred relationship Some 1

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