dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 770655004

Production

add

Component

770655004

The component that hold information about this concept.

Fully Specified Name (FSN)

Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)

Shortest Term

Franek bocker kahlen syndrome

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

Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)

SCTID: 770655004, Primitive, Active

770655004|Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)|

en Franek bocker kahlen syndrome
en Microcephalus, brain defect, spasticity, hypernatraemia syndrome
en Microcephalus, brain defect, spasticity, hypernatremia syndrome
en Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)

Expression

770655004 |Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)|
 <<< 127551000119100 |Congenital hypoplasia of brain (disorder)| + 
771115008 |Hypernatremia (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| + 
221360009 |Spasticity (finding)| + 
75047002 |Disorder of skeletal muscle (disorder)| + 
1148758003 |Congenital microcephaly (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 1303834006 |Abnormal smallness (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 69536005 |Head structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 55199003 |Hypoplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 35105006 |Increased (qualifier value)|,
363714003 |Interprets (attribute)| = 6918002 |Muscle tone (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 169876006 |Birth head circumference (observable entity)| }
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3701884016 - Franek Bocker Kahlen syndrome (en) View
3701884016	en	Synonym (core metadata concept)	Franek Bocker Kahlen syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3701883010 - Microcephalus, brain defect, spasticity, hypernatraemia syndrome (en) View
3701883010	en	Synonym (core metadata concept)	Microcephalus, brain defect, spasticity, hypernatraemia syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3701885015 - Microcephalus, brain defect, spasticity, hypernatremia syndrome (en) View
3701885015	en	Synonym (core metadata concept)	Microcephalus, brain defect, spasticity, hypernatremia syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3701882017 - Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) (en) View
3701882017	en	Fully specified name (core metadata concept)	Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9621711021) - 770655004 -> 41086002 (116676008) View
116676008 \|Associated morphology (attribute)\|	41086002 \|Congenital smallness (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15898834024) - 770655004 -> 1303834006 (116676008) View
116676008 \|Associated morphology (attribute)\|	1303834006 \|Abnormal smallness (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9621713024) - 770655004 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9621718026) - 770655004 -> 57148006 (116680003) View
116680003 \|Is a (attribute)\|	57148006 \|Congenital anomaly of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9621721029) - 770655004 -> 1829003 (116680003) View
116680003 \|Is a (attribute)\|	1829003 \|Microcephalus (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9633898024) - 770655004 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13745010027) - 770655004 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13745011028) - 770655004 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13745012024) - 770655004 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13745013025) - 770655004 -> 169876006 (363714003) View
363714003 \|Interprets (attribute)\|	169876006 \|Birth head circumference (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13745014020) - 770655004 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13745015021) - 770655004 -> 69536005 (363698007) View
363698007 \|Finding site (attribute)\|	69536005 \|Head structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13745016022) - 770655004 -> 127551000119100 (116680003) View
116680003 \|Is a (attribute)\|	127551000119100 \|Congenital hypoplasia of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13745017029) - 770655004 -> 1148758003 (116680003) View
116680003 \|Is a (attribute)\|	1148758003 \|Congenital microcephaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9621712025) - 770655004 -> 75047002 (116680003) View
116680003 \|Is a (attribute)\|	75047002 \|Disorder of skeletal muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9621714029) - 770655004 -> 221360009 (116680003) View
116680003 \|Is a (attribute)\|	221360009 \|Spasticity (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9621717020) - 770655004 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9621720028) - 770655004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9633773027) - 770655004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9633954023) - 770655004 -> 6918002 (363714003) View
363714003 \|Interprets (attribute)\|	6918002 \|Muscle tone (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9633955024) - 770655004 -> 35105006 (363713009) View
363713009 \|Has interpretation (attribute)\|	35105006 \|Increased (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10490749024) - 770655004 -> 771115008 (116680003) View
116680003 \|Is a (attribute)\|	771115008 \|Hypernatremia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519943023) - 770655004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10538362029) - 770655004 -> 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
1148758003 View
1148758003	Congenital microcephaly (disorder)	Congenital microcephaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
771115008 View
771115008	Hypernatremia (disorder)	Na excess	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
127551000119100 View
127551000119100	Congenital hypoplasia of brain (disorder)	Congenital hypoplasia of brain	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
75047002 View
75047002	Disorder of skeletal muscle (disorder)	Disorder of muscle	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
221360009 View
221360009	Spasticity (finding)	Co cứng	900000000000074008 \|Necessary but not sufficient concept 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 (cbfe051b-5d7e-542d-9830-7753f6f08a2e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G98	TRUE	ALWAYS G98 \| 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)\|

Terminology chevron_right Concepts chevron_right 770655004

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches