401315004: Smith-Magenis syndrome (disorder)

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

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Smith-Magenis syndrome (disorder)

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Smith-Magenis syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1769237019 Smith-Magenis syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

1780502018 Smith-Magenis syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

891381000172114 syndrome de microdélétion 17p11.2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

980121000172110 syndrome de Smith-Magenis fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

956171000172119 syndroom van Smith-Magenis nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

1011491000172115 17p11.2 microdeletiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Smith-Magenis syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Smith-Magenis syndrome (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Smith-Magenis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Smith-Magenis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Smith-Magenis syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	1
Smith-Magenis syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Smith-Magenis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

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Active

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Characteristic

Refinability

Group

This concept is not in any reference sets