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50279003: Metabolic bone disease (disorder)

Status: current, 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
83759019 Metabolic bone disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
495639013 Metabolic disorder of bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
788049018 Metabolic bone disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
123721000077118 maladie métabolique de l'os fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

120 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Metabolic bone disease Is a Disorder of bone and articular cartilage false Inferred relationship Some
Metabolic bone disease Is a Metabolic disease true Inferred relationship Some
Metabolic bone disease Finding site Bone structure true Inferred relationship Some 1
Metabolic bone disease Finding site Skeletal system structure false Inferred relationship Some
Metabolic bone disease Finding site Cartilaginous tissue structure false Inferred relationship Some
Metabolic bone disease Is a Disorder of bone (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Familial chondrocalcinosis Is a False Metabolic bone disease Inferred relationship Some
Secondary chondrocalcinosis Is a False Metabolic bone disease Inferred relationship Some
Skeletal fluorosis Is a True Metabolic bone disease Inferred relationship Some
Disorder with defective osteoid mineralization Is a True Metabolic bone disease Inferred relationship Some
Hepatic osteodystrophy Is a True Metabolic bone disease Inferred relationship Some
Morquio syndrome Is a True Metabolic bone disease Inferred relationship Some
Hyperphosphatasemia tarda Is a False Metabolic bone disease Inferred relationship Some
Osteitis fibrosa cystica Is a True Metabolic bone disease Inferred relationship Some
Ehlers-Danlos syndrome Is a False Metabolic bone disease Inferred relationship Some
Hungry bone syndrome Is a True Metabolic bone disease Inferred relationship Some
Autosomal dominant hypophosphataemic bone disease Is a True Metabolic bone disease Inferred relationship Some
Geroderma osteodysplastica Is a True Metabolic bone disease Inferred relationship Some
Osteopetrosis with renal tubular acidosis Is a True Metabolic bone disease Inferred relationship Some
Pseudohypoparathyroidism and pseudopseudohypoparathyroidism type I Is a False Metabolic bone disease Inferred relationship Some
Dysostosis multiplex group Is a True Metabolic bone disease Inferred relationship Some
maladie de Hand-Schüller-Christian Is a False Metabolic bone disease Inferred relationship Some
Rhizomelic chondrodysplasia punctata syndrome Is a True Metabolic bone disease Inferred relationship Some
Pseudohypoparathyroidism type I A Is a True Metabolic bone disease Inferred relationship Some
Menkes kinky-hair syndrome Is a True Metabolic bone disease Inferred relationship Some
Cutis laxa with osteodystrophy Is a True Metabolic bone disease Inferred relationship Some
Osteogenesis imperfecta Is a False Metabolic bone disease Inferred relationship Some
Progressive myositis ossificans Is a False Metabolic bone disease Inferred relationship Some
Hyperphosphatasemia with bone disease Is a True Metabolic bone disease Inferred relationship Some
Ehlers-Danlos syndrome (disorder) Is a True Metabolic bone disease Inferred relationship Some
Brown tumor of hyperparathyroidism Is a True Metabolic bone disease Inferred relationship Some
A rare syndromic mitochondrial disease characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. Is a True Metabolic bone disease Inferred relationship Some
Metabolic bone disease of prematurity (disorder) Is a True Metabolic bone disease Inferred relationship Some
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. Is a True Metabolic bone disease Inferred relationship Some
A rare multiple congenital anomalies syndrome characterised by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and abnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on. Is a False Metabolic bone disease Inferred relationship Some
Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies). Is a True Metabolic bone disease Inferred relationship Some
Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported. Is a True Metabolic bone disease Inferred relationship Some
A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase. Is a True Metabolic bone disease Inferred relationship Some
Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair. Is a True Metabolic bone disease Inferred relationship Some
A rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglyceridemia and diabetes mellitus/insulin resistance. Is a True Metabolic bone disease Inferred relationship Some
A rare, genetic, syndromic dysostosis characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (including misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia. Is a True Metabolic bone disease Inferred relationship Some
Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones. Is a True Metabolic bone disease 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 Metabolic bone disease Inferred relationship Some
A rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose. Is a True Metabolic bone disease Inferred relationship Some
Stewart-Morel-Morgagni syndrome (disorder) Is a True Metabolic bone disease 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 Metabolic bone disease Inferred relationship Some
Jarcho-Levin syndrome Is a True Metabolic bone disease Inferred relationship Some
Cutis laxa, x-linked Is a True Metabolic bone disease Inferred relationship Some
Desmosterolosis (disorder) Is a True Metabolic bone disease Inferred relationship Some
Toxic diffuse goiter with acropachy Is a True Metabolic bone disease Inferred relationship Some
A rare genodermatosis disease with great phenotypic variation and characterised most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. Is a True Metabolic bone disease Inferred relationship Some
A rare mitochondrial disease characterized by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging. Is a True Metabolic bone disease Inferred relationship Some
A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. Is a True Metabolic bone disease Inferred relationship Some

This concept is not in any reference sets

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