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9147009: Osteopoikilosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
16088011 Osteopoikilosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
834792010 Osteopoikilosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2536498019 Buschke-Ollendorff syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4419291000241110 ostéopoïkilose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Osteopoikilosis Is a Dysplasia with increased bone density true Inferred relationship Some
Osteopoikilosis Finding site Skeletal system structure false Inferred relationship Some 1
Osteopoikilosis Associated morphology Dysplasia true Inferred relationship Some 1
Osteopoikilosis Finding site Bone structure true Inferred relationship Some 1
Osteopoikilosis Occurrence Congenital false Inferred relationship Some
Osteopoikilosis Associated morphology Congenital dysplasia false Inferred relationship Some 1
Osteopoikilosis Associated morphology Congenital dysplasia false Inferred relationship Some 1
Osteopoikilosis Finding site Bone structure false Inferred relationship Some 1
Osteopoikilosis Occurrence Congenital false Inferred relationship Some 2
Osteopoikilosis Finding site Bone structure false Inferred relationship Some 2
Osteopoikilosis Associated morphology Congenital dysplasia false Inferred relationship Some 2
Osteopoikilosis Occurrence Congenital true Inferred relationship Some 1
Osteopoikilosis Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Osteopoikilosis Interprets Bone density scan true Inferred relationship Some 2
Osteopoikilosis Has interpretation Above reference range true Inferred relationship Some 2
Osteopoikilosis Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Dermatofibrosis lenticularis disseminata Is a True Osteopoikilosis Inferred relationship Some
12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. Is a True Osteopoikilosis Inferred relationship Some
Dacryocystitis and osteopoikilosis syndrome (disorder) Is a True Osteopoikilosis Inferred relationship Some
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. Is a True Osteopoikilosis Inferred relationship Some
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. Is a True Osteopoikilosis Inferred relationship Some

This concept is not in any reference sets

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