721875000: Juberg Marsidi syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head and neck region\Head finding\...

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

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Juberg Marsidi syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Juberg Marsidi syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Non-specific syndromic intellectual disability\Juberg Marsidi syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Non-specific syndromic intellectual disability\Juberg Marsidi syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Non-specific syndromic intellectual disability\Juberg Marsidi syndrome

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

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

Descriptions:

Id Description Lang Type Status Case? Module

3326407018 Juberg Marsidi syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3326408011 Juberg Marsidi syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Juberg Marsidi syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Juberg Marsidi syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Juberg Marsidi syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Juberg Marsidi syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Juberg Marsidi syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Juberg Marsidi syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Juberg Marsidi syndrome	Is a	Intellectual disability	false	Inferred relationship	Existential restriction modifier
Juberg Marsidi syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Juberg Marsidi syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Juberg Marsidi syndrome	Is a	Developmental hereditary disorder	false	Inferred relationship	Existential restriction modifier
Juberg Marsidi syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier
Juberg Marsidi syndrome	Is a	Non-specific syndromic intellectual disability	true	Inferred relationship	Existential restriction modifier
Juberg Marsidi syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	2
Juberg Marsidi syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	2
Juberg Marsidi syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	3
Juberg Marsidi syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3326407018	Juberg Marsidi syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3326408011	Juberg Marsidi syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module