403812000: Autosomal recessive pseudoxanthoma elasticum (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Connective tissue hereditary disorder (disorder)\Inherited pseudoxanthoma elasticum (disorder)\Autosomal recessive pseudoxanthoma elasticum (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive pseudoxanthoma elasticum (disorder)

\Degenerative disorder\Pseudoxanthoma elasticum\Inherited pseudoxanthoma elasticum (disorder)\Autosomal recessive pseudoxanthoma elasticum (disorder)

\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Inherited pseudoxanthoma elasticum (disorder)\Autosomal recessive pseudoxanthoma elasticum (disorder)
\Disorder of connective tissue (disorder)\Pseudoxanthoma elasticum\Inherited pseudoxanthoma elasticum (disorder)\Autosomal recessive pseudoxanthoma elasticum (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1771738014 Autosomal recessive pseudoxanthoma elasticum (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1782820011 Autosomal recessive pseudoxanthoma elasticum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5832901000172116 pseudoxanthome élastique autosomique récessive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4429621000172112 autosomaal recessief pseudoxanthoma elasticum nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4429631000172110 autosomaal recessief PXE nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4429641000172115 autosomaal recessief syndroom van Groenblad-Strandberg nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive pseudoxanthoma elasticum (disorder)	Is a	Inherited pseudoxanthoma elasticum (disorder)	true	Inferred relationship	Some
Autosomal recessive pseudoxanthoma elasticum (disorder)	Finding site	Connective tissue structure	false	Inferred relationship	Some	1
Autosomal recessive pseudoxanthoma elasticum (disorder)	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Autosomal recessive pseudoxanthoma elasticum (disorder)	Finding site	Connective tissue structure	true	Inferred relationship	Some	1
Autosomal recessive pseudoxanthoma elasticum (disorder)	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Autosomal recessive pseudoxanthoma elasticum (disorder)	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Autosomal recessive pseudoxanthoma elasticum (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets