721875000: Juberg-Marsidi-syndroom (aandoening)

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

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Juberg Marsidi syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Juberg Marsidi syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Juberg Marsidi syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Non-specific syndromic intellectual disability\Juberg Marsidi syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Non-specific syndromic intellectual disability\Juberg Marsidi syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Non-specific syndromic intellectual disability\Juberg Marsidi syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Non-specific syndromic intellectual disability\Juberg Marsidi syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Non-specific syndromic intellectual disability\Juberg Marsidi syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Juberg Marsidi syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Juberg Marsidi syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Juberg Marsidi syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Juberg Marsidi syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Juberg Marsidi syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Non-specific syndromic intellectual disability\Juberg Marsidi syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Non-specific syndromic intellectual disability\Juberg Marsidi syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Juberg Marsidi syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Juberg Marsidi syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Juberg Marsidi syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Juberg Marsidi syndrome (disorder)	Is a	mentale retardatie	false	Inferred relationship	Some
Juberg Marsidi syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Juberg Marsidi syndrome (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Juberg Marsidi syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Juberg Marsidi syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Juberg Marsidi syndrome (disorder)	Is a	Intellectual disability	false	Inferred relationship	Some
Juberg Marsidi syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Juberg Marsidi syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Juberg Marsidi syndrome (disorder)	Is a	Developmental hereditary disorder	false	Inferred relationship	Some
Juberg Marsidi syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Juberg Marsidi syndrome (disorder)	Is a	Non-specific syndromic intellectual disability	true	Inferred relationship	Some
Juberg Marsidi syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Juberg Marsidi syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	2
Juberg Marsidi syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Juberg Marsidi syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3326407018	Juberg Marsidi syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326408011	Juberg Marsidi syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6796391000146113	syndroom van Juberg-Marsidi	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10668771000146111	Juberg-Marsidi-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10668781000146113	Juberg-Marsidi-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)