1926006: Osteopetrosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Osteopetrosis (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Osteopetrosis (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Osteopetrosis (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteopetrosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Osteopetrosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Osteopetrosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Osteopetrosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteopetrosis (disorder)
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis (disorder)
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Osteopetrosis (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteopetrosis (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteopetrosis (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Osteopetrosis (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteopetrosis (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Osteopetrosis (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Osteopetrosis (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Osteopetrosis (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteopetrosis (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteopetrosis (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteopetrosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Osteopetrosis (disorder)	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Osteopetrosis (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Osteopetrosis (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Osteopetrosis (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteopetrosis (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteopetrosis (disorder)	Interprets	Osteoclast turnover rate	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteopetrosis (disorder)	Is a	Chronic disease of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteopetrosis (disorder)	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Osteopetrosis (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteopetrosis - delayed type	Is a	True	Osteopetrosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteopetrosis - intermediate type	Is a	True	Osteopetrosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteopetrosis with renal tubular acidosis	Is a	True	Osteopetrosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive lethal osteopetrosis	Is a	False	Osteopetrosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	True	Osteopetrosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Benign autosomal dominant osteopetrosis	Is a	False	Osteopetrosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteopetrosis - unclassified	Is a	False	Osteopetrosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteochondrodysplasia with osteopetrosis (disorder)	Is a	True	Osteopetrosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Transient infantile osteopetrosis (disorder)	Is a	True	Osteopetrosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.	Is a	True	Osteopetrosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder)	Is a	True	Osteopetrosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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).	Is a	True	Osteopetrosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteopetrosis hypogammaglobulinemia syndrome (disorder)	Is a	False	Osteopetrosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant osteopetrosis type 1 (disorder)	Is a	True	Osteopetrosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Pathological fracture of left foot due to osteopetrosis	Due to	True	Osteopetrosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pathologic fracture of right foot due to osteopetrosis	Due to	True	Osteopetrosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pathological fracture of foot due to osteopetrosis	Due to	True	Osteopetrosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	Is a	True	Osteopetrosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4322018	Osteopetrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
747194012	Osteopetrosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4322018	Osteopetrosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4322018	Osteopetrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
747194012	Osteopetrosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
747194012	Osteopetrosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3443321001000115	Osteopetrose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4393531000241119	ostéopétrose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4393531000241119	ostéopétrose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3443321001000115	Osteopetrose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module