1172628002: TBC1 domain containing kinase-related intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\TBC1 domain containing kinase-related intellectual disability syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\TBC1 domain containing kinase-related intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\TBC1 domain containing kinase-related intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\TBC1 domain containing kinase-related intellectual disability syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\TBC1 domain containing kinase-related intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\TBC1 domain containing kinase-related intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\TBC1 domain containing kinase-related intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\TBC1 domain containing kinase-related intellectual disability syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\TBC1 domain containing kinase-related intellectual disability syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\TBC1 domain containing kinase-related intellectual disability syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\TBC1 domain containing kinase-related intellectual disability syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\TBC1 domain containing kinase-related intellectual disability syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\TBC1 domain containing kinase-related intellectual disability syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4634855017 TBCK-related intellectual disability syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

4634856016 TBC1 domain containing kinase-related intellectual disability syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

4634857013 TBC1 domain containing kinase-related intellectual disability syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
TBC1 domain containing kinase-related intellectual disability syndrome	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Existential restriction modifier
TBC1 domain containing kinase-related intellectual disability syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
TBC1 domain containing kinase-related intellectual disability syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
TBC1 domain containing kinase-related intellectual disability syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
TBC1 domain containing kinase-related intellectual disability syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
TBC1 domain containing kinase-related intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
TBC1 domain containing kinase-related intellectual disability syndrome	Finding site	Structure of central nervous system	true	Inferred relationship	Existential restriction modifier	1
TBC1 domain containing kinase-related intellectual disability syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
TBC1 domain containing kinase-related intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1

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
4634855017	TBCK-related intellectual disability syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4634856016	TBC1 domain containing kinase-related intellectual disability syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4634857013	TBC1 domain containing kinase-related intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module