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89647000: Pyknodysostosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range\Dysplasia with increased bone density\Pyknodysostosis

\General finding of observation of patient\Procedure related finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Pyknodysostosis

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

Descriptions:

Id Description Lang Type Status Case? Module

148627017 Pyknodysostosis en Synonym Active Entire term case insensitive SNOMED CT core module

148628010 Maroteaux-Lamy pyknodysostosis syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

148629019 Maroteaux-Lamy syndrome II en Synonym Active Entire term case sensitive SNOMED CT core module

148630012 Stanesco's dysostosis syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

832584016 Pyknodysostosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pyknodysostosis	Is a	Disorder of finger	false	Inferred relationship	Existential restriction modifier
Pyknodysostosis	Is a	Dysplasia with increased bone density	true	Inferred relationship	Existential restriction modifier
Pyknodysostosis	Is a	Osteochondrodysplasia with osteopetrosis	true	Inferred relationship	Existential restriction modifier
Pyknodysostosis	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Pyknodysostosis	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Pyknodysostosis	Associated morphology	Abnormally hard consistency	false	Inferred relationship	Existential restriction modifier
Pyknodysostosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Pyknodysostosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Pyknodysostosis	Associated morphology	Hypoplasia	false	Inferred relationship	Existential restriction modifier	1
Pyknodysostosis	Finding site	Finger structure	false	Inferred relationship	Existential restriction modifier	1
Pyknodysostosis	Finding site	Connective tissue	false	Inferred relationship	Existential restriction modifier
Pyknodysostosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Pyknodysostosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	3
Pyknodysostosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Pyknodysostosis	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Pyknodysostosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Pyknodysostosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Pyknodysostosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Pyknodysostosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Pyknodysostosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Pyknodysostosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Pyknodysostosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Pyknodysostosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Pyknodysostosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Pyknodysostosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Pyknodysostosis	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Pyknodysostosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Pyknodysostosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Pyknodysostosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	3
Pyknodysostosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Pyknodysostosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Pyknodysostosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Pyknodysostosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Pyknodysostosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Pyknodysostosis	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Pyknodysostosis	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier	4
Pyknodysostosis	Interprets	Bone density scan	true	Inferred relationship	Existential restriction modifier	4
Pyknodysostosis	Interprets	Osteoclast turnover rate	true	Inferred relationship	Existential restriction modifier	3
Pyknodysostosis	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	2
Pyknodysostosis	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
148627017	Pyknodysostosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
148628010	Maroteaux-Lamy pyknodysostosis syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
148629019	Maroteaux-Lamy syndrome II	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
148630012	Stanesco's dysostosis syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
832584016	Pyknodysostosis (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module