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254104009: Dysplasia with decreased bone density (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
378263017 Dysplasia with decreased bone density en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
644949010 Dysplasia with decreased bone density (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5081861000241118 dysplasie avec dimunition de la densité osseuse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

18 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dysplasia with decreased bone density Is a Congenital skeletal dysplasia (disorder) true Inferred relationship Some
Dysplasia with decreased bone density Associated morphology Dysplasia true Inferred relationship Some 1
Dysplasia with decreased bone density Finding site Skeletal system structure false Inferred relationship Some 1
Dysplasia with decreased bone density Occurrence Congenital false Inferred relationship Some
Dysplasia with decreased bone density Finding site Bone structure true Inferred relationship Some 1
Dysplasia with decreased bone density Associated morphology Congenital dysplasia false Inferred relationship Some 1
Dysplasia with decreased bone density Associated morphology Congenital dysplasia false Inferred relationship Some 1
Dysplasia with decreased bone density Finding site Bone structure false Inferred relationship Some 1
Dysplasia with decreased bone density Occurrence Congenital false Inferred relationship Some 2
Dysplasia with decreased bone density Finding site Bone structure false Inferred relationship Some 2
Dysplasia with decreased bone density Associated morphology Congenital dysplasia false Inferred relationship Some 2
Dysplasia with decreased bone density Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Dysplasia with decreased bone density Occurrence Congenital true Inferred relationship Some 1
Dysplasia with decreased bone density Is a Bone density below reference range true Inferred relationship Some
Dysplasia with decreased bone density Interprets Bone density scan true Inferred relationship Some 2
Dysplasia with decreased bone density Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Dysplasia with decreased bone density Has interpretation Below reference range true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Juvenile idiopathic generalised osteoporosis Is a False Dysplasia with decreased bone density Inferred relationship Some
Bruck syndrome Is a True Dysplasia with decreased bone density Inferred relationship Some
Singleton-Merten syndrome Is a True Dysplasia with decreased bone density Inferred relationship Some
Geroderma osteodysplastica Is a True Dysplasia with decreased bone density Inferred relationship Some
Menkes kinky-hair syndrome Is a True Dysplasia with decreased bone density Inferred relationship Some
Osteogenesis imperfecta Is a False Dysplasia with decreased bone density Inferred relationship Some
Cole-Carpenter dysplasia (disorder) Is a True Dysplasia with decreased bone density Inferred relationship Some
Spondyloocular syndrome (disorder) Is a True Dysplasia with decreased bone density Inferred relationship Some
A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia. Is a True Dysplasia with decreased bone density Inferred relationship Some
A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported. Is a True Dysplasia with decreased bone density Inferred relationship Some
Bowed tibia, radial anomaly, osteopenia, fracture syndrome Is a False Dysplasia with decreased bone density Inferred relationship Some
A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. Is a True Dysplasia with decreased bone density Inferred relationship Some
A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999. Is a True Dysplasia with decreased bone density Inferred relationship Some
A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. Is a True Dysplasia with decreased bone density Inferred relationship Some
A rare, genetic, primary bone dysplasia with decreased bone density disorder characterized by childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores, and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype. Is a True Dysplasia with decreased bone density Inferred relationship Some
A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by benign, isolated, calvarial thickening, presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences, and facial dysmorphism comprising a flat nasal root and short, upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986. Is a True Dysplasia with decreased bone density Inferred relationship Some
A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated. Is a True Dysplasia with decreased bone density Inferred relationship Some
A rare primary bone dysplasia characterised by reduced bone mineral density (defined as a Z score below -2.0), vertebral compression fractures, and recurrent peripheral fractures caused by low-impact trauma, leading to bone pain and impaired mobility. Patients typically become symptomatic in childhood or adolescence. Is a True Dysplasia with decreased bone density Inferred relationship Some
A rare, genetic, primary bone dysplasia with decreased bone density characterized by fetal lethality, severe hypomineralization of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion, and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs, and kidneys have also been associated. Is a True Dysplasia with decreased bone density Inferred relationship Some
A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising, and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (like mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphisms (like high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive. Is a True Dysplasia with decreased bone density Inferred relationship Some
A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. Is a True Dysplasia with decreased bone density Inferred relationship Some

This concept is not in any reference sets

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