722031003: Kapur Toriello syndrome (disorder)

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

\Head finding (finding)\Finding of head region\Orofacial cleft (disorder)\Kapur Toriello syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Congenital abnormality of oral cavity\Kapur Toriello syndrome (disorder)
\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\Kapur Toriello syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello 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\Kapur Toriello syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Kapur Toriello 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\Kapur Toriello syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome (disorder)

\Digestive system finding (finding)\Finding of mouth region (finding)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome (disorder)
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Congenital abnormality of oral cavity\Kapur Toriello syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Kapur Toriello syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\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 (disorder)

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

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Kapur Toriello syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Kapur Toriello syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Kapur Toriello syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Kapur Toriello syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Kapur Toriello syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Kapur Toriello 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\Kapur Toriello syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Kapur Toriello 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\Kapur Toriello syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (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 (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\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 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Kapur Toriello syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Kapur Toriello syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\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 (disorder)
\Disease\Disorder of head (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello 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\Kapur Toriello syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Kapur Toriello 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\Kapur Toriello syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Kapur Toriello syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Kapur Toriello syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Kapur Toriello syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Kapur Toriello 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\Kapur Toriello syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome (disorder)
\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 (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

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

3330225010 Kapur Toriello syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402777013 Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402778015 Kapur-Toriello syndrome is an extremely rare syndrome characterised by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330224014	Kapur Toriello syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330225010	Kapur Toriello syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402777013	Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402778015	Kapur-Toriello syndrome is an extremely rare syndrome characterised by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core