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1926006: Osteopetrosis (disorder)

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

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

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

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

1972911000005110 Osteopetrose da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteopetrosis	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Osteopetrosis	Finding site	Bone structure	false	Inferred relationship	Some	1
Osteopetrosis	Occurrence	Congenital	false	Inferred relationship	Some
Osteopetrosis	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Osteopetrosis	Finding site	Bone structure	false	Inferred relationship	Some	1
Osteopetrosis	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Osteopetrosis	Occurrence	Congenital	false	Inferred relationship	Some	2
Osteopetrosis	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Osteopetrosis	Finding site	Bone structure	false	Inferred relationship	Some	2
Osteopetrosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteopetrosis	Finding site	Bone structure	true	Inferred relationship	Some	1
Osteopetrosis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteopetrosis	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Osteopetrosis	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Osteopetrosis	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Osteopetrosis	Interprets	Osteoclast turnover rate	true	Inferred relationship	Some	2
Osteopetrosis	Is a	Chronic disease of musculoskeletal system	true	Inferred relationship	Some
Osteopetrosis	Clinical course	Progressive	true	Inferred relationship	Some	3
Osteopetrosis	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteopetrosis - delayed type	Is a	True	Osteopetrosis	Inferred relationship	Some
Osteopetrosis - intermediate type (disorder)	Is a	True	Osteopetrosis	Inferred relationship	Some
Osteopetrosis with renal tubular acidosis	Is a	True	Osteopetrosis	Inferred relationship	Some
Autosomal recessive lethal osteopetrosis	Is a	False	Osteopetrosis	Inferred relationship	Some
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	Inferred relationship	Some
Benign autosomal dominant osteopetrose	Is a	False	Osteopetrosis	Inferred relationship	Some
Osteopetrose – ikke-klassificeret	Is a	False	Osteopetrosis	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis	Is a	True	Osteopetrosis	Inferred relationship	Some
Transient infantile osteopetrosis	Is a	True	Osteopetrosis	Inferred relationship	Some
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.	Is a	True	Osteopetrosis	Inferred relationship	Some
This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.	Is a	True	Osteopetrosis	Inferred relationship	Some
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	Inferred relationship	Some
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 (for example anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.	Is a	False	Osteopetrosis	Inferred relationship	Some
A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.	Is a	True	Osteopetrosis	Inferred relationship	Some
Pathological fracture of left foot due to osteopetrosis	Due to	True	Osteopetrosis	Inferred relationship	Some	2
Pathologic fracture of right foot due to osteopetrosis	Due to	True	Osteopetrosis	Inferred relationship	Some	2
Pathological fracture of foot due to osteopetrosis	Due to	True	Osteopetrosis	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.	Is a	True	Osteopetrosis	Inferred relationship	Some

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
1972911000005110	Osteopetrose	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)