783165001: Dysplastic cortical hyperostosis (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Procedure related finding\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range (finding)\Dysplasia with increased bone density\An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.
• \Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding above reference range\Bone density above reference range (finding)\Dysplasia with increased bone density\An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.
• \Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Bone densimetry abnormal\Bone density above reference range (finding)\Dysplasia with increased bone density\An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.
• \Procedure related finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density\An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.
• \Musculoskeletal finding\Bone finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density\An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Dysplasia with increased bone density\An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density\An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density\An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density\An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.
• \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\An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density\An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.

Status: current, Not 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
3757918012	An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757916011	Dysplastic cortical hyperostosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3757917019	Kozlowski Tsuruta syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757919016	Dysplastic cortical hyperostosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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