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Terminology chevron_right Concepts chevron_right 237755009

Production

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Language with ID “6eca87e7-30c4-4bd4-9a28-c400cc404bca” doesn’t exist. Perhaps it was deleted?

Component

237755009

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital adrenal hyperplasia - desmolase deficiency (disorder)

Shortest Term

Cah - desmolase deficiency

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

Congenital adrenal hyperplasia - desmolase deficiency (disorder)

SCTID: 237755009, Primitive, Active

237755009|Congenital adrenal hyperplasia - desmolase deficiency (disorder)|

en Congenital adrenal hyperplasia - desmolase deficiency
en Congenital adrenal hyperplasia - desmolase deficiency (disorder)
en Congenital adrenal hyperplasia (cah)- desmolase deficiency
en Cah - desmolase deficiency

Expression

237755009 |Congenital adrenal hyperplasia - desmolase deficiency (disorder)|
 <<< 271077003 |Adrenal virilism (disorder)| + 
237751000 |Congenital adrenal hyperplasia (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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2913841018 - Congenital adrenal hyperplasia - desmolase deficiency (en) View
2913841018	en	Synonym (core metadata concept)	Congenital adrenal hyperplasia - desmolase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2913724014 - Congenital adrenal hyperplasia - desmolase deficiency (disorder) (en) View
2913724014	en	Fully specified name (core metadata concept)	Congenital adrenal hyperplasia - desmolase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2609128018 - Congenital adrenal hyperplasia (CAH)- desmolase deficiency (disorder) (en) View
2609128018	en	Fully specified name (core metadata concept)	Congenital adrenal hyperplasia (CAH)- desmolase deficiency (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
626528014 - CAH - desmolase deficiency (disorder) (en) View
626528014	en	Fully specified name (core metadata concept)	CAH - desmolase deficiency (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	False
2619572018 - Congenital adrenal hyperplasia (CAH)- desmolase deficiency (en) View
2619572018	en	Synonym (core metadata concept)	Congenital adrenal hyperplasia (CAH)- desmolase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
356316014 - CAH - desmolase deficiency (en) View
356316014	en	Synonym (core metadata concept)	CAH - desmolase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (3469066025) - 237755009 -> 76197007 (116676008) View
116676008 \|Associated morphology (attribute)\|	76197007 \|Hyperplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5988119022) - 237755009 -> 50493007 (116676008) View
116676008 \|Associated morphology (attribute)\|	50493007 \|Congenital hyperplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10525621021) - 237755009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5007543022) - 237755009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5007544027) - 237755009 -> 76197007 (116676008) View
116676008 \|Associated morphology (attribute)\|	76197007 \|Hyperplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5007545026) - 237755009 -> 68594002 (363698007) View
363698007 \|Finding site (attribute)\|	68594002 \|Adrenal cortex structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2575200029) - 237755009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3312451021) - 237755009 -> 68594002 (363698007) View
363698007 \|Finding site (attribute)\|	68594002 \|Adrenal cortex structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (526519020) - 237755009 -> 68594002 (363698007) View
363698007 \|Finding site (attribute)\|	68594002 \|Adrenal cortex structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2853946023) - 237755009 -> 76197007 (116676008) View
116676008 \|Associated morphology (attribute)\|	76197007 \|Hyperplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (526518028) - 237755009 -> 127944005 (363698007) View
363698007 \|Finding site (attribute)\|	127944005 \|Entire endocrine gonad (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (53344025) - 237755009 -> 271077003 (116680003) View
116680003 \|Is a (attribute)\|	271077003 \|Adrenal virilism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (53345029) - 237755009 -> 237751000 (116680003) View
116680003 \|Is a (attribute)\|	237751000 \|Congenital adrenal hyperplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
237751000 View
237751000	Congenital adrenal hyperplasia (disorder)	Congenital adrenal hyperplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
271077003 View
271077003	Adrenal virilism (disorder)	Wilkins disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
44231009 View
44231009	Cholesterol monooxygenase (side-chain cleaving) deficiency (disorder)	20,22-desmolase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
49013001 View
49013001	17 alpha-hydroxyprogesterone aldolase deficiency (disorder)	Steroid 17,20-lyase deficiency	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 (d3b259f4-f5db-5be7-ad75-6c87b431f92a) 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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