1231182008: Isolated osteopoikilosis (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 (disorder)\Osteopoikilosis\Isolated osteopoikilosis (disorder)
\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 (disorder)\Osteopoikilosis\Isolated osteopoikilosis (disorder)
\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 (disorder)\Osteopoikilosis\Isolated osteopoikilosis (disorder)
\Procedure related finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Osteopoikilosis\Isolated osteopoikilosis (disorder)

\Musculoskeletal finding\Bone finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Osteopoikilosis\Isolated osteopoikilosis (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopoikilosis\Isolated osteopoikilosis (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Osteopoikilosis\Isolated osteopoikilosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Isolated osteopoikilosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Osteopoikilosis\Isolated osteopoikilosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopoikilosis\Isolated osteopoikilosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Osteopoikilosis\Isolated osteopoikilosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Osteopoikilosis\Isolated osteopoikilosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis\Isolated osteopoikilosis (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Isolated osteopoikilosis (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Isolated osteopoikilosis (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Isolated osteopoikilosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Osteopoikilosis\Isolated osteopoikilosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis\Isolated osteopoikilosis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Isolated osteopoikilosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Isolated osteopoikilosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Osteopoikilosis\Isolated osteopoikilosis (disorder)
\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\Osteopoikilosis\Isolated osteopoikilosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Osteopoikilosis\Isolated osteopoikilosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Osteopoikilosis\Isolated osteopoikilosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis\Isolated osteopoikilosis (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopoikilosis\Isolated osteopoikilosis (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Isolated osteopoikilosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Osteopoikilosis\Isolated osteopoikilosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis\Isolated osteopoikilosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5071800014 Isolated osteopoikilosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5071801013 Isolated osteopoikilosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5400189011 A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400190019 A rare primary bone dysplasia characterised by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Isolated osteopoikilosis (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Isolated osteopoikilosis (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Isolated osteopoikilosis (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Isolated osteopoikilosis (disorder)	Is a	Osteopoikilosis	true	Inferred relationship	Some
Isolated osteopoikilosis (disorder)	Interprets	Bone density scan	true	Inferred relationship	Some	2
Isolated osteopoikilosis (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	2
Isolated osteopoikilosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Isolated osteopoikilosis (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Isolated osteopoikilosis (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Isolated osteopoikilosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5071800014	Isolated osteopoikilosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5071801013	Isolated osteopoikilosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5400189011	A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400190019	A rare primary bone dysplasia characterised by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core