722031003: Kapur Toriello syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Digestive system finding\Finding of mouth region\Disease 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 anomaly of upper digestive 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 anomaly of upper digestive 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\Disease 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 anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour 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\Disease 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\Disease 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\Intellectual ability - finding\Intellectual disability\Kapur Toriello syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\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 anomaly of upper digestive 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 anomaly of upper digestive 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\Disease 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 anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome
\Disease\Disorder of head\Disease 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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Kapur Toriello syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Kapur Toriello syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Kapur Toriello syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive 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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Kapur Toriello syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Kapur Toriello syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Kapur Toriello syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Kapur Toriello syndrome

Status: current, Primitive. 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 Case sensitive SNOMED CT core

3330225010 Kapur Toriello syndrome en Synonym Active Case sensitive SNOMED CT core

3330226011 An extremely rare syndrome with characteristics of facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. Only four cases have been reported in the literature, in three unrelated families. Dysmorphic features include bilateral cleft lip and palate, bulbous nasal tip and eye anomalies. The condition seems to be inherited as an autosomal recessive trait. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330224014	Kapur Toriello syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3330225010	Kapur Toriello syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3330226011	An extremely rare syndrome with characteristics of facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. Only four cases have been reported in the literature, in three unrelated families. Dysmorphic features include bilateral cleft lip and palate, bulbous nasal tip and eye anomalies. The condition seems to be inherited as an autosomal recessive trait.	en	Definition	Active	Case sensitive	SNOMED CT core