403812000: autosomaal recessief pseudoxanthoma elasticum (aandoening)

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

9337681000146117 autosomaal recessief pseudoxanthoma elasticum (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9337691000146115 autosomaal recessief pseudoxanthoma elasticum nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9408721000146111 autosomaal recessief syndroom van Groenblad-Strandberg nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9408731000146113 autosomaal recessief PXE nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained 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	degeneratie (afwijkende morfologie)	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	degeneratie (afwijkende morfologie)	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

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Group

This concept is not in any reference sets