29076005: Meckel-Gruber-syndroom (aandoening)

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

\Disorder of foetus and/or newborn\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

6686511000146118 dysencephalia splanchnocystica nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6686521000146111 syndroom van Meckel-Gruber nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6686531000146113 Meckel-Gruber-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6686551000146119 syndroom van Meckel nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6686561000146116 syndroom van Gruber nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10670831000146113 Meckel-Gruber-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained 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	gebrekkige ontwikkeling (afwijkende morfologie)	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

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)