43857005: Osteoclast turnover rate (observable entity)

SNOMED CT Concept\Observable entity (observable entity)\Clinical history/examination observable (observable entity)\Musculoskeletal observable\Bone observable\Osteoclast turnover rate

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

73125017 Osteoclast turnover rate en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2529098019 Osteoclast turnover rate (observable entity) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

7075661000241113 taux de renouvellement des ostéoclastes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteoclast turnover rate	Is a	Bone function	false	Inferred relationship	Some
Osteoclast turnover rate	Is a	Bone observable	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteopetrosis - intermediate type	Interprets	True	Osteoclast turnover rate	Inferred relationship	Some	2
A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates).	Interprets	True	Osteoclast turnover rate	Inferred relationship	Some	2
Osteopetrosis	Interprets	True	Osteoclast turnover rate	Inferred relationship	Some	2
This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.	Interprets	True	Osteoclast turnover rate	Inferred relationship	Some	3
Transient infantile osteopetrosis	Interprets	True	Osteoclast turnover rate	Inferred relationship	Some	2
A rare congenital disorder of bone resorption characterised by generalised skeletal densification.	Interprets	True	Osteoclast turnover rate	Inferred relationship	Some	2
Benign autosomal dominant osteopetrosis	Interprets	False	Osteoclast turnover rate	Inferred relationship	Some	2
Osteopetrosis with renal tubular acidosis	Interprets	True	Osteoclast turnover rate	Inferred relationship	Some	2
Osteopetrosis - delayed type	Interprets	True	Osteoclast turnover rate	Inferred relationship	Some	2
Hyperphosphatasemia tarda	Interprets	True	Osteoclast turnover rate	Inferred relationship	Some	4
Pyknodysostosis	Interprets	True	Osteoclast turnover rate	Inferred relationship	Some	3
Sclerosteosis	Interprets	True	Osteoclast turnover rate	Inferred relationship	Some	3
Endosteal hyperostoses	Interprets	True	Osteoclast turnover rate	Inferred relationship	Some	3
Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait.	Interprets	True	Osteoclast turnover rate	Inferred relationship	Some	3
Lenz-Majewski hyperostosis syndrome	Interprets	True	Osteoclast turnover rate	Inferred relationship	Some	3
Worth disease	Interprets	True	Osteoclast turnover rate	Inferred relationship	Some	3
Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.	Interprets	True	Osteoclast turnover rate	Inferred relationship	Some	3
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.	Interprets	True	Osteoclast turnover rate	Inferred relationship	Some	5
Osteochondrodysplasia with osteopetrosis	Interprets	True	Osteoclast turnover rate	Inferred relationship	Some	3
Craniometadiaphyseal dysplasia	Interprets	True	Osteoclast turnover rate	Inferred relationship	Some	3
Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.	Interprets	True	Osteoclast turnover rate	Inferred relationship	Some	4
A rare primary bone dysplasia with increased bone density characterized by slowly progressive endosteal hyperostosis and osteosclerosis exclusively of the skull base and the calvaria, resulting in entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII. First symptoms often appear during the second decade of life and include disturbances in smell, vision, facial sensation and expression, hearing, and balance, as well as headaches due to increased ocular and intracranial pressure. After the fourth decade, radiological progression is minimal, although decreased intracranial volume can lead to death in severe cases.	Interprets	True	Osteoclast turnover rate	Inferred relationship	Some	3
A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.	Interprets	True	Osteoclast turnover rate	Inferred relationship	Some	2
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.	Interprets	True	Osteoclast turnover rate	Inferred relationship	Some	9

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
73125017	Osteoclast turnover rate	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2529098019	Osteoclast turnover rate (observable entity)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7075661000241113	taux de renouvellement des ostéoclastes	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module