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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteoclast turnover rate	Is a	Bone function	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteoclast turnover rate	Is a	Bone observable	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteopetrosis - intermediate type	Interprets	True	Osteoclast turnover rate	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	2
Osteopetrosis (disorder)	Interprets	True	Osteoclast turnover rate	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder)	Interprets	True	Osteoclast turnover rate	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Transient infantile osteopetrosis (disorder)	Interprets	True	Osteoclast turnover rate	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare congenital disorder of bone resorption characterised by generalised skeletal densification. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in fetal life. It results from the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure. It is accompanied by hepatosplenomegaly due to compensatory extramedullary hematopoiesis. The disease is heterogeneous. Over 50% of cases are due to mutations in the TCIRG1 gene and another 10% are due to mutations in the CLCN7 gene. A small number of patients have been described with mutations in the OSTM1 gene. Transmission is autosomal recessive.	Interprets	True	Osteoclast turnover rate	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Benign autosomal dominant osteopetrosis	Interprets	False	Osteoclast turnover rate	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteopetrosis with renal tubular acidosis	Interprets	True	Osteoclast turnover rate	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteopetrosis - delayed type	Interprets	True	Osteoclast turnover rate	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hyperphosphatasemia tarda	Interprets	True	Osteoclast turnover rate	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Pyknodysostosis (disorder)	Interprets	True	Osteoclast turnover rate	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Sclerosteosis (disorder)	Interprets	True	Osteoclast turnover rate	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Endosteal hyperostoses (disorder)	Interprets	True	Osteoclast turnover rate	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	3
Lenz-Majewski hyperostosis syndrome (disorder)	Interprets	True	Osteoclast turnover rate	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Worth disease	Interprets	True	Osteoclast turnover rate	Inferred relationship	Existential restriction modifier (core metadata concept)	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 modelling 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	Existential restriction modifier (core metadata concept)	3
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.	Interprets	True	Osteoclast turnover rate	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Osteochondrodysplasia with osteopetrosis (disorder)	Interprets	True	Osteoclast turnover rate	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Craniometadiaphyseal dysplasia	Interprets	True	Osteoclast turnover rate	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Osteopetrosis hypogammaglobulinemia syndrome (disorder)	Interprets	True	Osteoclast turnover rate	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	3
Autosomal dominant osteopetrosis type 1 (disorder)	Interprets	True	Osteoclast turnover rate	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	Interprets	True	Osteoclast turnover rate	Inferred relationship	Existential restriction modifier (core metadata concept)	9

This concept is not in any reference sets

Back to Start

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
73125017	Osteoclast turnover rate	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
73125017	Osteoclast turnover rate	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
780918013	Osteoclast turnover rate (function)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1203183011	Osteoclast turnover rate, function (observable entity)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2529098019	Osteoclast turnover rate (observable entity)	en	Fully specified name	Active	Only initial character 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