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363030001: Congenital anomaly of lower trunk (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482165015 Congenital anomaly of lower trunk en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
754808016 Congenital anomaly of lower trunk (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5229021000241119 anomalie congénitale de la partie inférieure du tronc fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1464 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of lower trunk Is a Congenital anomaly of trunk true Inferred relationship Some
Congenital anomaly of lower trunk Finding site Trunk structure (body structure) false Inferred relationship Some 1
Congenital anomaly of lower trunk Occurrence Congenital false Inferred relationship Some
Congenital anomaly of lower trunk Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of lower trunk Finding site This segment relates to the volume of the trunk that is bounded by and includes: superiorly thoracic diaphragm and inferiorly the perineum and external genitalia. The volume includes the entire transverse thickness of the body over the longitudinal extent between these upper (superior) and lower (inferior) boundaries including the overlying muscles, skin and subcutaneous tissue. The segment includes the abdominopelvic cavity, contents and wall including the posterior lumbar region, the volume of the true and false pelvic cavities including the bony pelvis and pelvic wall, the entire perineum and external genitalia including skin and subcutaneous tissue. false Inferred relationship Some 1
Congenital anomaly of lower trunk Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of lower trunk Finding site This segment relates to the volume of the trunk that is bounded by and includes: superiorly thoracic diaphragm and inferiorly the perineum and external genitalia. The volume includes the entire transverse thickness of the body over the longitudinal extent between these upper (superior) and lower (inferior) boundaries including the overlying muscles, skin and subcutaneous tissue. The segment includes the abdominopelvic cavity, contents and wall including the posterior lumbar region, the volume of the true and false pelvic cavities including the bony pelvis and pelvic wall, the entire perineum and external genitalia including skin and subcutaneous tissue. true Inferred relationship Some 1
Congenital anomaly of lower trunk Is a Congenital abnormality of lower limb and pelvic girdle (disorder) true Inferred relationship Some
Congenital anomaly of lower trunk Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of lower trunk Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital anomaly of lower trunk Finding site This segment relates to the volume of the trunk that is bounded by and includes: superiorly thoracic diaphragm and inferiorly the perineum and external genitalia. The volume includes the entire transverse thickness of the body over the longitudinal extent between these upper (superior) and lower (inferior) boundaries including the overlying muscles, skin and subcutaneous tissue. The segment includes the abdominopelvic cavity, contents and wall including the posterior lumbar region, the volume of the true and false pelvic cavities including the bony pelvis and pelvic wall, the entire perineum and external genitalia including skin and subcutaneous tissue. false Inferred relationship Some 2
Congenital anomaly of lower trunk Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of lower trunk Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of lower trunk Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of lower trunk Is a Disorder of abdominopelvic segment of trunk true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital anomaly of the pelvis Is a True Congenital anomaly of lower trunk Inferred relationship Some
Genitourinary congenital anomalies Is a True Congenital anomaly of lower trunk Inferred relationship Some
Congenital anomaly of lumbar vertebra Is a True Congenital anomaly of lower trunk Inferred relationship Some
Lumbar spina bifida with hydrocephalus Is a False Congenital anomaly of lower trunk Inferred relationship Some
Congenital anomaly of perineum Is a True Congenital anomaly of lower trunk Inferred relationship Some
Congenital anomaly of abdomen Is a True Congenital anomaly of lower trunk Inferred relationship Some
Sacral agenesis Is a False Congenital anomaly of lower trunk Inferred relationship Some
Congenital anomaly of vulva Is a False Congenital anomaly of lower trunk Inferred relationship Some
dysgénésie de la queue de cheval Is a False Congenital anomaly of lower trunk Inferred relationship Some
Congenital absence of vulva Is a False Congenital anomaly of lower trunk Inferred relationship Some
Anorectal anomaly Is a True Congenital anomaly of lower trunk Inferred relationship Some
Condition with either the sacralization of the lowest lumbar segment or the lumbarization of the most superior sacral segment of the spine. Is a True Congenital anomaly of lower trunk Inferred relationship Some
Congenital lumbosacral fusion (disorder) Is a False Congenital anomaly of lower trunk Inferred relationship Some
Caudal regression syndrome Is a False Congenital anomaly of lower trunk Inferred relationship Some
Congenital sacral meningocele Is a False Congenital anomaly of lower trunk Inferred relationship Some
Hypoplasia of sacrum (disorder) Is a False Congenital anomaly of lower trunk Inferred relationship Some
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Is a False Congenital anomaly of lower trunk Inferred relationship Some
Leptomyelolipoma (disorder) Is a False Congenital anomaly of lower trunk Inferred relationship Some
Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia). Is a False Congenital anomaly of lower trunk Inferred relationship Some
Congenital anomaly of diaphragm Is a False Congenital anomaly of lower trunk Inferred relationship Some
Congenital anomaly of cauda equina Is a True Congenital anomaly of lower trunk Inferred relationship Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder) Is a True Congenital anomaly of lower trunk Inferred relationship Some
An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterised by aplasia cutis congenita of the vertex and generalised oedema (as well as hypoproteinaemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. Is a True Congenital anomaly of lower trunk Inferred relationship Some
Congenital dislocation of hip Is a True Congenital anomaly of lower trunk Inferred relationship Some
Congenital deformity of hip joint Is a True Congenital anomaly of lower trunk Inferred relationship Some
A primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing. Is a True Congenital anomaly of lower trunk Inferred relationship Some
Congenital abduction contracture of hip Is a True Congenital anomaly of lower trunk Inferred relationship Some
Congenital flexion contracture of hip Is a True Congenital anomaly of lower trunk Inferred relationship Some
Congenital coxa valga Is a True Congenital anomaly of lower trunk Inferred relationship Some
Congenital coxa vara Is a True Congenital anomaly of lower trunk Inferred relationship Some
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated. Is a True Congenital anomaly of lower trunk Inferred relationship Some
Congenital deformity of lumbosacral region Is a True Congenital anomaly of lower trunk Inferred relationship Some
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. Is a True Congenital anomaly of lower trunk Inferred relationship Some
Congenital deformity of lumbosacral joint Is a False Congenital anomaly of lower trunk Inferred relationship Some
Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts. Is a True Congenital anomaly of lower trunk 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 anomaly of lower trunk Inferred relationship Some
Congenital lumbosacral spondylolisthesis Is a True Congenital anomaly of lower trunk Inferred relationship Some
Congenital anomaly of lower alimentary tract Is a True Congenital anomaly of lower trunk Inferred relationship Some
Aplasia of muscle of pelvis Is a True Congenital anomaly of lower trunk Inferred relationship Some
Aplasia of neck of femur Is a True Congenital anomaly of lower trunk Inferred relationship Some
Aplasia of proximal epiphysis of femur Is a True Congenital anomaly of lower trunk Inferred relationship Some
Proximal femoral focal deficiency Is a True Congenital anomaly of lower trunk Inferred relationship Some
Congenital hypoplasia of bone of head and neck of femur (disorder) Is a False Congenital anomaly of lower trunk Inferred relationship Some
Congenital hypoplasia of lesser trochanter of femur (disorder) Is a False Congenital anomaly of lower trunk Inferred relationship Some
Congenital hypoplasia of muscle of pelvis (disorder) Is a True Congenital anomaly of lower trunk Inferred relationship Some
Congenital hypoplasia of proximal epiphysis of femur (disorder) Is a True Congenital anomaly of lower trunk Inferred relationship Some
Congenital dysplasia of head of femur (disorder) Is a True Congenital anomaly of lower trunk Inferred relationship Some

This concept is not in any reference sets

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