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Terminology chevron_right Concepts chevron_right 71578002

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Component

71578002

The component that hold information about this concept.

Fully Specified Name (FSN)

Steroid 21-monooxygenase deficiency, salt wasting type (disorder)

Shortest Term

Congenital adrenal hyperplasia, type 2

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

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

Summary

Steroid 21-monooxygenase deficiency, salt wasting type (disorder)

SCTID: 71578002, Defined, Active

71578002|Steroid 21-monooxygenase deficiency, salt wasting type (disorder)|

en 21-hydroxylase deficiency, salt wasting type
en Congenital adrenal hyperplasia, type 2
en Steroid 21-monooxygenase deficiency, salt wasting type
en Steroid 21-monooxygenase deficiency, salt wasting type (disorder)

Expression

71578002 |Steroid 21-monooxygenase deficiency, salt wasting type (disorder)|
 === 237753002 |Salt-losing congenital adrenal hyperplasia (disorder)| + 
717261006 |Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 76197007 |Hyperplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 68594002 |Adrenal cortex structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 42752001 |Due to (attribute)| = 124221007 |Deficiency of steroid 21-monooxygenase (disorder)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
200220011 - 21-hydroxylase deficiency, salt wasting type (en) View
200220011	en	Synonym (core metadata concept)	21-hydroxylase deficiency, salt wasting type	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
118913019 - Congenital adrenal hyperplasia, type 2 (en) View
118913019	en	Synonym (core metadata concept)	Congenital adrenal hyperplasia, type 2	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
118912012 - Steroid 21-monooxygenase deficiency, salt wasting type (en) View
118912012	en	Synonym (core metadata concept)	Steroid 21-monooxygenase deficiency, salt wasting type	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
811759010 - Steroid 21-monooxygenase deficiency, salt wasting type (disorder) (en) View
811759010	en	Fully specified name (core metadata concept)	Steroid 21-monooxygenase deficiency, salt wasting type (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6786424027) - 71578002 -> 124221007 (42752001) View
42752001 \|Due to (attribute)\|	124221007 \|Deficiency of steroid 21-monooxygenase (disorder)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2866941023) - 71578002 -> 76197007 (116676008) View
116676008 \|Associated morphology (attribute)\|	76197007 \|Hyperplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3376577026) - 71578002 -> 50493007 (116676008) View
116676008 \|Associated morphology (attribute)\|	50493007 \|Congenital hyperplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008515027) - 71578002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008517024) - 71578002 -> 68594002 (363698007) View
363698007 \|Finding site (attribute)\|	68594002 \|Adrenal cortex structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5966391027) - 71578002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5966393029) - 71578002 -> 68594002 (363698007) View
363698007 \|Finding site (attribute)\|	68594002 \|Adrenal cortex structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522946026) - 71578002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6594553026) - 71578002 -> 698855007 (42752001) View
42752001 \|Due to (attribute)\|	698855007 \|21-hydroxylase deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2696141026) - 71578002 -> 124221007 (116680003) View
116680003 \|Is a (attribute)\|	124221007 \|Deficiency of steroid 21-monooxygenase (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6594554021) - 71578002 -> 717261006 (116680003) View
116680003 \|Is a (attribute)\|	717261006 \|Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3376578020) - 71578002 -> 68594002 (363698007) View
363698007 \|Finding site (attribute)\|	68594002 \|Adrenal cortex structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008516026) - 71578002 -> 76197007 (116676008) View
116676008 \|Associated morphology (attribute)\|	76197007 \|Hyperplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2600606024) - 71578002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3182582029) - 71578002 -> 60637003 (116680003) View
116680003 \|Is a (attribute)\|	60637003 \|Congenital anomaly of adrenal gland (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (852160024) - 71578002 -> 68594002 (363698007) View
363698007 \|Finding site (attribute)\|	68594002 \|Adrenal cortex structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (852162027) - 71578002 -> 50493007 (116676008) View
116676008 \|Associated morphology (attribute)\|	50493007 \|Congenital hyperplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (852161023) - 71578002 -> 127944005 (363698007) View
363698007 \|Finding site (attribute)\|	127944005 \|Entire endocrine gonad (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (264457028) - 71578002 -> 237753002 (116680003) View
116680003 \|Is a (attribute)\|	237753002 \|Salt-losing congenital adrenal hyperplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
717261006 View
717261006	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
237753002 View
237753002	Salt-losing congenital adrenal hyperplasia (disorder)	Salt-losing congenital adrenal hyperplasia	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 (3add91e3-60bf-5937-9b7c-53b1de9de511) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E25.0	TRUE	ALWAYS E25.0	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)\|

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