722031003: Kapur Toriello syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Digestive system finding\Finding of mouth region\Disorder of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Kapur Toriello syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Kapur Toriello syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disorder of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Kapur Toriello syndrome

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

\Finding of head region\Orofacial cleft\Kapur Toriello syndrome
\Finding of head region\Finding of mouth region\Disorder of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Kapur Toriello syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Kapur Toriello syndrome

\Disorder of head\Disorder of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Kapur Toriello syndrome
\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Kapur Toriello syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Kapur Toriello syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Kapur Toriello syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Kapur Toriello syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Kapur Toriello syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Kapur Toriello syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Kapur Toriello syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Kapur Toriello syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Kapur Toriello syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Kapur Toriello syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disorder of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome
\Disease\Disorder of head\Disorder of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Kapur Toriello syndrome
\Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Kapur Toriello syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Kapur Toriello syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Kapur Toriello syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Kapur Toriello syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Kapur Toriello syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Kapur Toriello syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Kapur Toriello syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Kapur Toriello syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Kapur Toriello syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Kapur Toriello syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello 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

3330224014 Kapur Toriello syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3330225010 Kapur Toriello syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Kapur Toriello syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Kapur Toriello syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Kapur Toriello syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Kapur Toriello syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Kapur Toriello syndrome	Is a	Orofacial cleft	true	Inferred relationship	Existential restriction modifier
Kapur Toriello syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Kapur Toriello syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Kapur Toriello syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Kapur Toriello syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Kapur Toriello syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Kapur Toriello syndrome	Finding site	Structure of region of internal part of mouth	false	Inferred relationship	Existential restriction modifier	3
Kapur Toriello syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Kapur Toriello syndrome	Is a	Congenital abnormality of oral cavity	true	Inferred relationship	Existential restriction modifier
Kapur Toriello syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Existential restriction modifier	1
Kapur Toriello syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Kapur Toriello syndrome	Finding site	Structure of subregion of head	false	Inferred relationship	Existential restriction modifier	1
Kapur Toriello syndrome	Finding site	Structure of region of internal part of mouth	true	Inferred relationship	Existential restriction modifier	1
Kapur Toriello syndrome	Finding site	Structure of subregion of head	true	Inferred relationship	Existential restriction modifier	3
Kapur Toriello syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Kapur Toriello syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Kapur Toriello syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Existential restriction modifier	3
Kapur Toriello syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Kapur Toriello syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Kapur Toriello syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Kapur Toriello syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Kapur Toriello syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Kapur Toriello syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	4
Kapur Toriello syndrome	Finding site	Bone structure of head	false	Inferred relationship	Existential restriction modifier	4
Kapur Toriello syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Existential restriction modifier	4
Kapur Toriello syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Kapur Toriello syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	4
Kapur Toriello syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
Kapur Toriello syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
Kapur Toriello syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5

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
3330224014	Kapur Toriello syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3330225010	Kapur Toriello syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module