dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 720830009

Production

add

Component

720830009

The component that hold information about this concept.

Fully Specified Name (FSN)

Neuronal ceroid lipofuscinosis due to deficiency of cathepsin d (disorder)

Shortest Term

Neuronal ceroid lipofuscinosis 10

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

Neuronal ceroid lipofuscinosis due to deficiency of cathepsin d (disorder)

SCTID: 720830009, Primitive, Active

720830009|Neuronal ceroid lipofuscinosis due to deficiency of cathepsin d (disorder)|

en Cathepsin d deficient neuronal ceroid lipofuscinosis
en Congenital neuronal ceroid lipofuscinosis
en Neuronal ceroid lipofuscinosis 10
en Neuronal ceroid lipofuscinosis due to cathepsin d deficiency
en Neuronal ceroid lipofuscinosis due to deficiency of cathepsin d
en Neuronal ceroid lipofuscinosis due to deficiency of cathepsin d (disorder)

Expression

720830009 |Neuronal ceroid lipofuscinosis due to deficiency of cathepsin d (disorder)|
 <<< 42012007 |Neuronal ceroid lipofuscinosis (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| : 
        { 42752001 |Due to (attribute)| = 720831008 |Deficiency of cathepsin d (disorder)| }
        { 116676008 |Associated morphology (attribute)| = 107669003 |Degenerative abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3535042018 - Cathepsin D deficient neuronal ceroid lipofuscinosis (en) View
3535042018	en	Synonym (core metadata concept)	Cathepsin D deficient neuronal ceroid lipofuscinosis	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
3322213010 - Congenital neuronal ceroid lipofuscinosis (en) View
3322213010	en	Synonym (core metadata concept)	Congenital neuronal ceroid lipofuscinosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3322221016 - Neuronal ceroid lipofuscinosis 10 (en) View
3322221016	en	Synonym (core metadata concept)	Neuronal ceroid lipofuscinosis 10	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3322220015 - Neuronal ceroid lipofuscinosis due to cathepsin D deficiency (en) View
3322220015	en	Synonym (core metadata concept)	Neuronal ceroid lipofuscinosis due to cathepsin D deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
3322214016 - Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (en) View
3322214016	en	Synonym (core metadata concept)	Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
3322212017 - Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) (en) View
3322212017	en	Fully specified name (core metadata concept)	Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6687754027) - 720830009 -> 33359002 (116676008) View
116676008 \|Associated morphology (attribute)\|	33359002 \|Degeneration (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12091224023) - 720830009 -> 107669003 (116676008) View
116676008 \|Associated morphology (attribute)\|	107669003 \|Degenerative abnormality (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687751024) - 720830009 -> 720831008 (42752001) View
42752001 \|Due to (attribute)\|	720831008 \|Deficiency of cathepsin d (disorder)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687752028) - 720830009 -> 42012007 (116680003) View
116680003 \|Is a (attribute)\|	42012007 \|Neuronal ceroid lipofuscinosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687753022) - 720830009 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687755026) - 720830009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687756025) - 720830009 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
42012007 View
42012007	Neuronal ceroid lipofuscinosis (disorder)	Cerebromacular dystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	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 (3644405b-2b05-5e3a-9a38-054cb5e03e8b) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E75.4	TRUE	ALWAYS E75.4 \| 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 720830009

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches