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Terminology chevron_right Concepts chevron_right 190681003

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Component

190681003

The component that hold information about this concept.

Fully Specified Name (FSN)

Cystinosis (disorder)

Shortest Term

Cystinosis

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

Cystinosis (disorder)

SCTID: 190681003, Primitive, Active

190681003|Cystinosis (disorder)|

en Cystine diathesis
en Cystine disease
en Cystine storage disease
en Cystinosis
en Cystinosis (disorder)

Expression

190681003 |Cystinosis (disorder)|
 <<< 16784003 |Amino acid transport disorder (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
28821000119102 |Lysosomal storage disease (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
293066014 - Cystine diathesis (en) View
293066014	en	Synonym (core metadata concept)	Cystine diathesis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
293064012 - Cystine disease (en) View
293064012	en	Synonym (core metadata concept)	Cystine disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
293065013 - Cystine storage disease (en) View
293065013	en	Synonym (core metadata concept)	Cystine storage disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
293063018 - Cystinosis (en) View
293063018	en	Synonym (core metadata concept)	Cystinosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
574292018 - Cystinosis (disorder) (en) View
574292018	en	Fully specified name (core metadata concept)	Cystinosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1222227015 - Lignac-Fanconi syndrome (en) View
1222227015	en	Synonym (core metadata concept)	Lignac-Fanconi syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (1651896025) - 190681003 -> 34420000 (116680003) View
116680003 \|Is a (attribute)\|	34420000 \|Storage disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15686653024) - 190681003 -> 28821000119102 (116680003) View
116680003 \|Is a (attribute)\|	28821000119102 \|Lysosomal storage disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (462358020) - 190681003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1720609024) - 190681003 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (19210028) - 190681003 -> 106000008 (116680003) View
116680003 \|Is a (attribute)\|	106000008 \|Metabolic renal disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (19212020) - 190681003 -> 363338001 (116680003) View
116680003 \|Is a (attribute)\|	363338001 \|Hereditary disorder of the urinary system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (19213026) - 190681003 -> 78626001 (116680003) View
116680003 \|Is a (attribute)\|	78626001 \|Congenital anomaly of trunk (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (462359028) - 190681003 -> 64033007 (363698007) View
363698007 \|Finding site (attribute)\|	64033007 \|Kidney structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1651897023) - 190681003 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (19211029) - 190681003 -> 16784003 (116680003) View
116680003 \|Is a (attribute)\|	16784003 \|Amino acid transport disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
28821000119102 View
28821000119102	Lysosomal storage disease (disorder)	Lysosomal storage disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
16784003 View
16784003	Amino acid transport disorder (disorder)	Amino acid transport disorder	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
22830006 View
22830006	Juvenile nephropathic cystinosis (disorder)	Juvenile cystinosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
25010000 View
25010000	Benign adult cystinosis (disorder)	Benign cystinosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
62332007 View
62332007	Infantile nephropathic cystinosis (disorder)	Nephropathic cystinosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (bf873c3d-c45d-516a-a6fa-a3765e6d0066) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E72.0	TRUE	ALWAYS E72.0	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)\|
ExtendedMap object (e20ec2eb-bdfa-5198-a92d-4bb91113bbf9) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	N29.8	TRUE	ALWAYS N29.8 \| THIS CODE MAY BE USED IN THE PRIMARY POSITION WHEN THE MANIFESTATION IS THE PRIMARY FOCUS OF CARE	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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