702816000: Methyl-cytosine phosphate guanine binding protein-2 duplication 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\Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Trisomy Xq28\Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Trisomy Xq28\Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome

Status: current, Primitive. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3006199010	Methyl-CpG (cytosine phosphate guanine) binding protein-2 duplication syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3006205015	MECP2 duplication syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3006209014	Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3006219015	Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3009035015	Lubs X-linked mental retardation syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3643143014	Lubs X-linked intellectual disability syndrome	en	Synonym	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

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