722477003: Toriello Carey syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \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\Toriello Carey syndrome
• \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\Toriello Carey syndrome
• \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\Toriello Carey syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Toriello Carey syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Toriello Carey syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Toriello Carey syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Toriello Carey syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Toriello Carey syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Toriello Carey syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Toriello Carey syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Toriello Carey syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Toriello Carey syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Toriello Carey syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Toriello Carey syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Toriello Carey syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Toriello Carey syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Toriello Carey syndrome

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
3332329014	Toriello Carey syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3332332012	Toriello Carey syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402966011	Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402967019	Toriello Carey syndrome is a multiple congenital anomaly syndrome characterised by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3332329014	Toriello Carey syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3332332012	Toriello Carey syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3332331017	A multiple congenital anomaly syndrome with characteristics of craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia. Main clinical signs include telecanthus, short palpebral fissures, small nose with anteverted nares, Pierre Robin sequence, abnormally shaped ears, redundant neck skin and features of midline structural abnormalities with agenesis of corpus callosum, laryngeal anomalies and congenital heart defects. Short hands and hypotonia may also be observed. Patients have a moderate to severe intellectual disability. There is evidence that this is a heterogeneous condition, with chromosome anomalies identified in approximately 20%, and at least two candidate genes identified: MN1 (22q12.1) which has been reported in a microdeletion and SATB2 (2q33.1), interrupted by a de novo balanced translocation in another patient.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402966011	Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402967019	Toriello Carey syndrome is a multiple congenital anomaly syndrome characterised by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3426531001000118	Toriello-Carey-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3426531001000118	Toriello-Carey-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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