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1926006: Osteopetrosis (disorder)

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
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

22 descendants. Search Descendants:

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 anomalie congénitale false Inferred relationship Some 1
Osteopetrosis Finding site Bone structure false Inferred relationship Some 1
Osteopetrosis Associated morphology anomalie congénitale false Inferred relationship Some 1
Osteopetrosis Occurrence Congenital false Inferred relationship Some 2
Osteopetrosis Associated morphology anomalie du développement 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 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. Is a True Osteopetrosis Inferred relationship Some
Benign autosomal dominant osteopetrosis Is a False Osteopetrosis Inferred relationship Some
Osteopetrosis - unclassified 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
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. 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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