1187644009: Basel Vanagaite Smirin Yosef syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Basel Vanagaite Smirin Yosef 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\Basel Vanagaite Smirin Yosef syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Basel Vanagaite Smirin Yosef syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Basel Vanagaite Smirin Yosef syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Basel Vanagaite Smirin Yosef syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Basel Vanagaite Smirin Yosef syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Basel Vanagaite Smirin Yosef syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Basel Vanagaite Smirin Yosef syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Basel Vanagaite Smirin Yosef syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Basel Vanagaite Smirin Yosef syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Basel Vanagaite Smirin Yosef syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Basel Vanagaite Smirin Yosef syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Basel Vanagaite Smirin Yosef syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Basel Vanagaite Smirin Yosef syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Basel Vanagaite Smirin Yosef syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Basel Vanagaite Smirin Yosef syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Basel Vanagaite Smirin Yosef syndrome
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Basel Vanagaite Smirin Yosef syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4675722018 Basel Vanagaite Smirin Yosef syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

4675723011 Basel Vanagaite Smirin Yosef syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Basel Vanagaite Smirin Yosef syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Basel Vanagaite Smirin Yosef syndrome	Is a	Global developmental delay	true	Inferred relationship	Existential restriction modifier
Basel Vanagaite Smirin Yosef syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Basel Vanagaite Smirin Yosef syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Basel Vanagaite Smirin Yosef syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Basel Vanagaite Smirin Yosef syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Basel Vanagaite Smirin Yosef syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Basel Vanagaite Smirin Yosef syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Basel Vanagaite Smirin Yosef syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Basel Vanagaite Smirin Yosef syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	2
Basel Vanagaite Smirin Yosef syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	2
Basel Vanagaite Smirin Yosef syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	3
Basel Vanagaite Smirin Yosef 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
4675722018	Basel Vanagaite Smirin Yosef syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
4675723011	Basel Vanagaite Smirin Yosef syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module