1237513008: Osteosclerotic metaphyseal dysplasia (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteosclerosis\Osteosclerotic metaphyseal dysplasia
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteosclerosis\Osteosclerotic metaphyseal dysplasia
• \Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Osteosclerosis\Osteosclerotic metaphyseal dysplasia
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteosclerotic metaphyseal dysplasia
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteosclerosis\Osteosclerotic metaphyseal dysplasia
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteosclerotic metaphyseal dysplasia
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis\Osteosclerotic metaphyseal dysplasia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteosclerosis\Osteosclerotic metaphyseal dysplasia
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteosclerosis\Osteosclerotic metaphyseal dysplasia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Osteosclerotic metaphyseal dysplasia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteosclerosis\Osteosclerotic metaphyseal dysplasia
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteosclerosis\Osteosclerotic metaphyseal dysplasia
• \Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Osteosclerosis\Osteosclerotic metaphyseal dysplasia
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteosclerotic metaphyseal dysplasia
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteosclerosis\Osteosclerotic metaphyseal dysplasia
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteosclerotic metaphyseal dysplasia
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis\Osteosclerotic metaphyseal dysplasia
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteosclerotic metaphyseal dysplasia
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis\Osteosclerotic metaphyseal dysplasia
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteosclerosis\Osteosclerotic metaphyseal dysplasia
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteosclerosis\Osteosclerotic metaphyseal dysplasia
• \Disease\Developmental disorder\Developmental hereditary disorder\Osteosclerosis\Osteosclerotic metaphyseal dysplasia
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteosclerotic metaphyseal dysplasia
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis\Osteosclerotic metaphyseal dysplasia

Status: current, Primitive. Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5099589013	Osteosclerotic metaphyseal dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
5099590016	Osteosclerotic metaphyseal dysplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5099591017	A rare primary bone dysplasia characterized by osteosclerosis localized predominantly to the metaphyses and epiphyseal margins of the appendicular bones and metaphyseal equivalents of the axial bones, as well as the vertebral endplates, costal ends and margins of the flat bones. The skull is usually unaffected. The condition is associated with developmental delay and hypotonia. Seizures and spastic paraplegia have also been reported. Serum alkaline phosphatase and urinary pyridinoline and deoxypyridinoline levels may be elevated.	en	Definition	Active	Case sensitive	SNOMED CT core
5099592012	A rare primary bone dysplasia characterised by osteosclerosis localised predominantly to the metaphyses and epiphyseal margins of the appendicular bones and metaphyseal equivalents of the axial bones, as well as the vertebral endplates, costal ends and margins of the flat bones. The skull is usually unaffected. The condition is associated with developmental delay and hypotonia. Seizures and spastic paraplegia have also been reported. Serum alkaline phosphatase and urinary pyridinoline and deoxypyridinoline levels may be elevated.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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