717772000: Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\CODAS syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\CODAS syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\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 head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\CODAS syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\CODAS syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\CODAS syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\CODAS syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\CODAS syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\CODAS syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\CODAS syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3310448013	Cerebro-oculo-dento-auriculo-skeletal syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3310513016	CODAS syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3310514010	CODAS (cerebro-oculo-dento-auriculo-skeletal) syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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