29076005: Meckel-Gruber syndrome (disorder)

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

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Meckel-Gruber syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Meckel-Gruber syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

48666014 Meckel-Gruber syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

48667017 Dysencephalia splanchnocystica en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

759929010 Meckel-Gruber syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

5787011000172113 syndrome de Gruber fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4360581000172118 syndroom van Meckel-Gruber nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4360591000172115 Meckel-Gruber-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4360601000172113 dysencephalia splanchnocystica nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4360611000172111 syndroom van Gruber nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4360621000172118 syndroom van Meckel 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
Meckel-Gruber syndrome	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	true	Inferred relationship	Some
Meckel-Gruber syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Meckel-Gruber syndrome	Finding site	Brain structure	false	Inferred relationship	Some	1
Meckel-Gruber syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Meckel-Gruber syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Meckel-Gruber syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	1
Meckel-Gruber syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Meckel-Gruber syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets