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Terminology chevron_right Concepts chevron_right 771303004

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Component

771303004

The component that hold information about this concept.

Fully Specified Name (FSN)

Severe neonatal onset encephalopathy with microcephaly (disorder)

Shortest Term

Mecp2-related severe neonatal encephalopathy

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Severe neonatal onset encephalopathy with microcephaly (disorder)

SCTID: 771303004, Primitive, Active

771303004|Severe neonatal onset encephalopathy with microcephaly (disorder)|

en Mecp2-related severe neonatal encephalopathy
en Severe congenital encephalopathy due to mecp2 (methyl-cpg binding protein 2) mutation
en Severe congenital encephalopathy due to mecp2 mutation
en Severe congenital encephalopathy due to methyl-cpg binding protein 2 mutation
en Severe neonatal onset encephalopathy with microcephaly
en Severe neonatal onset encephalopathy with microcephaly (disorder)

Expression

771303004 |Severe neonatal onset encephalopathy with microcephaly (disorder)|
 <<< 87476004 |Convulsions in the newborn (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
95628005 |Neonatal encephalopathy (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1148757008 |Microcephaly (finding)| + 
1162976004 |X-linked recessive hereditary disease (disorder)| + 
1275631007 |Developmental and epileptic encephalopathy (disorder)| + 
1296869000 |Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder)| : 
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 363812007 |Head circumference (observable entity)| }
        { 363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)|,
246454002 |Occurrence (attribute)| = 255407002 |Neonatal (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5287635011 - MECP2-related severe neonatal encephalopathy (en) View
5287635011	en	Synonym (core metadata concept)	MECP2-related severe neonatal encephalopathy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3705556014 - Severe congenital encephalopathy due to MECP2 (methyl-CpG binding protein 2) mutation (en) View
3705556014	en	Synonym (core metadata concept)	Severe congenital encephalopathy due to MECP2 (methyl-CpG binding protein 2) mutation	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
3705555013 - Severe congenital encephalopathy due to MECP2 mutation (en) View
3705555013	en	Synonym (core metadata concept)	Severe congenital encephalopathy due to MECP2 mutation	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
3705552011 - Severe congenital encephalopathy due to methyl-CpG binding protein 2 mutation (en) View
3705552011	en	Synonym (core metadata concept)	Severe congenital encephalopathy due to methyl-CpG binding protein 2 mutation	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
3705554012 - Severe neonatal onset encephalopathy with microcephaly (en) View
3705554012	en	Synonym (core metadata concept)	Severe neonatal onset encephalopathy with microcephaly	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3705553018 - Severe neonatal onset encephalopathy with microcephaly (disorder) (en) View
3705553018	en	Fully specified name (core metadata concept)	Severe neonatal onset encephalopathy with microcephaly (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9662431023) - 771303004 -> 87476004 (116680003) View
116680003 \|Is a (attribute)\|	87476004 \|Convulsions in the newborn (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10224227027) - 771303004 -> 280369009 (363698007) View
363698007 \|Finding site (attribute)\|	280369009 \|Brain tissue structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15719774021) - 771303004 -> 1275631007 (116680003) View
116680003 \|Is a (attribute)\|	1275631007 \|Developmental and epileptic encephalopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15805431023) - 771303004 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15819106025) - 771303004 -> 1296869000 (116680003) View
116680003 \|Is a (attribute)\|	1296869000 \|Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662439020) - 771303004 -> 128430005 (116680003) View
116680003 \|Is a (attribute)\|	128430005 \|X-linked hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14018846027) - 771303004 -> 1162976004 (116680003) View
116680003 \|Is a (attribute)\|	1162976004 \|X-linked recessive hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662434026) - 771303004 -> 1829003 (116680003) View
116680003 \|Is a (attribute)\|	1829003 \|Microcephalus (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9662437022) - 771303004 -> 57148006 (116680003) View
116680003 \|Is a (attribute)\|	57148006 \|Congenital anomaly of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10224226020) - 771303004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10224228021) - 771303004 -> 41086002 (116676008) View
116676008 \|Associated morphology (attribute)\|	41086002 \|Congenital smallness (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10224229029) - 771303004 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10524825022) - 771303004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13752341022) - 771303004 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13752342026) - 771303004 -> 363812007 (363714003) View
363714003 \|Interprets (attribute)\|	363812007 \|Head circumference (observable entity)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13752343020) - 771303004 -> 1148757008 (116680003) View
116680003 \|Is a (attribute)\|	1148757008 \|Microcephaly (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069953024) - 771303004 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662433021) - 771303004 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662438028) - 771303004 -> 95628005 (116680003) View
116680003 \|Is a (attribute)\|	95628005 \|Neonatal encephalopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10224230023) - 771303004 -> 255407002 (246454002) View
246454002 \|Occurrence (attribute)\|	255407002 \|Neonatal (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524824021) - 771303004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
87476004 View
87476004	Convulsions in the newborn (disorder)	Fits in newborn	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1296869000 View
1296869000	Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder)	Mecp2 related disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1275631007 View
1275631007	Developmental and epileptic encephalopathy (disorder)	Developmental and epileptic encephalopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1162976004 View
1162976004	X-linked recessive hereditary disease (disorder)	X-linked recessive hereditary disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1148757008 View
1148757008	Microcephaly (finding)	Microcephaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
95628005 View
95628005	Neonatal encephalopathy (disorder)	Neonatal encephalopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (f61b4f66-419b-5758-bfa6-71640ff58aa0) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q02	TRUE	ALWAYS Q02 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

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