717772000: Cerebro-oculo-dento-auriculo-skeletal 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\CODAS 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\CODAS 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\CODAS syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\CODAS syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\CODAS 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\CODAS 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\CODAS syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\CODAS syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\CODAS syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\CODAS syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\CODAS 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\CODAS 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
3310447015	Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3310448013	Cerebro-oculo-dento-auriculo-skeletal syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3310513016	CODAS syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3310514010	CODAS (cerebro-oculo-dento-auriculo-skeletal) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401590018	Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401591019	Codas syndrome is a multiple congenital anomalies syndrome characterised by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3310447015	Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3310447015	Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3310448013	Cerebro-oculo-dento-auriculo-skeletal syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3310448013	Cerebro-oculo-dento-auriculo-skeletal syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3310513016	CODAS syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3310514010	CODAS (cerebro-oculo-dento-auriculo-skeletal) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3310517015	A multiple congenital anomalies syndrome with characteristics of cerebral, ocular, dental, auricular and skeletal anomalies. To date, three affected children (an unrelated Canadian girl and boy of Mennonite descent, and a girl from Brazil) have been reported. Characteristic features consist of psychomotor delay, cataracts, abnormally shaped teeth (including enamel projections extending from the tips of the cusps), delayed tooth eruption, malformed ears (over folded and crumpled ears), sensorineural hearing loss, short stature with marked epiphyseal dysplasia and an unusual facial phenotype.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401590018	Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401591019	Codas syndrome is a multiple congenital anomalies syndrome characterised by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3394191001000115	CODAS-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5776131000241116	syndrome CODAS (cérébro-oculo-dento-auriculo-squelettique)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5776141000241114	syndrome cérébro-oculo-dento-auriculo-squelettique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5776131000241116	syndrome CODAS (cérébro-oculo-dento-auriculo-squelettique)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5776141000241114	syndrome cérébro-oculo-dento-auriculo-squelettique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3394191001000115	CODAS-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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