27837003: Pyle metaphyseal dysplasia (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)\Pyle metaphyseal dysplasia
\Procedure related finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Pyle metaphyseal dysplasia

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Pyle metaphyseal dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pyle metaphyseal dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pyle metaphyseal dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Pyle metaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Pyle metaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Pyle metaphyseal dysplasia
\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\Pyle metaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Pyle metaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Pyle metaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Pyle metaphyseal dysplasia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Pyle metaphyseal dysplasia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Pyle metaphyseal dysplasia
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Pyle metaphyseal dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Pyle metaphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Pyle metaphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Pyle metaphyseal dysplasia

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pyle metaphyseal dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Pyle metaphyseal dysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Pyle metaphyseal dysplasia	Is a	Dysplasia with increased bone density (disorder)	true	Inferred relationship	Some
Pyle metaphyseal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Pyle metaphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Pyle metaphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Pyle metaphyseal dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Pyle metaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Pyle metaphyseal dysplasia	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Pyle metaphyseal dysplasia	Finding site	Bone structure	true	Inferred relationship	Some	1
Pyle metaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Pyle metaphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Pyle metaphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Pyle metaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Pyle metaphyseal dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Pyle metaphyseal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Pyle metaphyseal dysplasia	Interprets	Bone density scan	true	Inferred relationship	Some	2
Pyle metaphyseal dysplasia	Has interpretation	Above reference range	true	Inferred relationship	Some	2
Pyle metaphyseal dysplasia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Pyle metaphyseal dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
46590012	Pyle metaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
46591011	Pyle disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
196628015	Pyle's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
483686012	Metaphyseal dysplasia	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
758450015	Pyle metaphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4479621000241119	dysplasie métaphysaire familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module