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Terminology chevron_right Concepts chevron_right 49013001

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Component

49013001

The component that hold information about this concept.

Fully Specified Name (FSN)

17 alpha-hydroxyprogesterone aldolase deficiency (disorder)

Shortest Term

Steroid 17,20-lyase 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

17 alpha-hydroxyprogesterone aldolase deficiency (disorder)

SCTID: 49013001, Primitive, Active

49013001|17 alpha-hydroxyprogesterone aldolase deficiency (disorder)|

en 17 alpha-hydroxyprogesterone aldolase deficiency
en 17 alpha-hydroxyprogesterone aldolase deficiency (disorder)
en Defective synthesis of 17-20 desmolase
en Male pseudohermaphroditism due to testicular 17,20-desmolase deficiency
en Steroid 17,20-lyase deficiency

Expression

49013001 |17 alpha-hydroxyprogesterone aldolase deficiency (disorder)|
 <<< 78548001 |Enzymopathy (disorder)| + 
237755009 |Congenital adrenal hyperplasia - desmolase deficiency (disorder)| + 
86095007 |Inborn error of metabolism (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
81655014 - 17 alpha-Hydroxyprogesterone aldolase deficiency (en) View
81655014	en	Synonym (core metadata concept)	17 alpha-Hydroxyprogesterone aldolase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
786645016 - 17 alpha-Hydroxyprogesterone aldolase deficiency (disorder) (en) View
786645016	en	Fully specified name (core metadata concept)	17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
495287013 - Defective synthesis of 17-20 desmolase (en) View
495287013	en	Synonym (core metadata concept)	Defective synthesis of 17-20 desmolase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
81657018 - Male pseudohermaphroditism due to testicular 17,20-desmolase deficiency (en) View
81657018	en	Synonym (core metadata concept)	Male pseudohermaphroditism due to testicular 17,20-desmolase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
81656010 - Steroid 17,20-lyase deficiency (en) View
81656010	en	Synonym (core metadata concept)	Steroid 17,20-lyase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (3301013024) - 49013001 -> 50493007 (116676008) View
116676008 \|Associated morphology (attribute)\|	50493007 \|Congenital hyperplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5007596029) - 49013001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5007598028) - 49013001 -> 68594002 (363698007) View
363698007 \|Finding site (attribute)\|	68594002 \|Adrenal cortex structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5962085021) - 49013001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5962087029) - 49013001 -> 68594002 (363698007) View
363698007 \|Finding site (attribute)\|	68594002 \|Adrenal cortex structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10521002024) - 49013001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11168237022) - 49013001 -> 76197007 (116676008) View
116676008 \|Associated morphology (attribute)\|	76197007 \|Hyperplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (227816021) - 49013001 -> 363104002 (116680003) View
116680003 \|Is a (attribute)\|	363104002 \|Hereditary disorder of endocrine system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3455883027) - 49013001 -> 68594002 (363698007) View
363698007 \|Finding site (attribute)\|	68594002 \|Adrenal cortex structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5007597022) - 49013001 -> 76197007 (116676008) View
116676008 \|Associated morphology (attribute)\|	76197007 \|Hyperplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (794638027) - 49013001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3182583023) - 49013001 -> 60637003 (116680003) View
116680003 \|Is a (attribute)\|	60637003 \|Congenital anomaly of adrenal gland (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (794630023) - 49013001 -> 68594002 (363698007) View
363698007 \|Finding site (attribute)\|	68594002 \|Adrenal cortex structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3209692027) - 49013001 -> 50493007 (116676008) View
116676008 \|Associated morphology (attribute)\|	50493007 \|Congenital hyperplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (227817028) - 49013001 -> 363290007 (116680003) View
116680003 \|Is a (attribute)\|	363290007 \|Reproductive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (227819025) - 49013001 -> 111332007 (116680003) View
116680003 \|Is a (attribute)\|	111332007 \|Male pseudohermaphroditism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (794637021) - 49013001 -> 23290009 (116676008) View
116676008 \|Associated morphology (attribute)\|	23290009 \|Glandular hyperplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1768981024) - 49013001 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1768983022) - 49013001 -> 43174007 (363698007) View
363698007 \|Finding site (attribute)\|	43174007 \|Gonadal structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2596953029) - 49013001 -> 71934003 (363698007) View
363698007 \|Finding site (attribute)\|	71934003 \|Genital structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2596954024) - 49013001 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (521504023) - 49013001 -> 128181006 (363698007) View
363698007 \|Finding site (attribute)\|	128181006 \|Entire genital organ (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (794629029) - 49013001 -> 10052007 (363698007) View
363698007 \|Finding site (attribute)\|	10052007 \|Male structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (227820020) - 49013001 -> 60637003 (116680003) View
116680003 \|Is a (attribute)\|	60637003 \|Congenital anomaly of adrenal gland (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2032270020) - 49013001 -> 111333002 (116680003) View
116680003 \|Is a (attribute)\|	111333002 \|Congenital anomaly of genital system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1768982028) - 49013001 -> 71934003 (363698007) View
363698007 \|Finding site (attribute)\|	71934003 \|Genital structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (521502022) - 49013001 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (794625024) - 49013001 -> 127944005 (363698007) View
363698007 \|Finding site (attribute)\|	127944005 \|Entire endocrine gonad (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (794628021) - 49013001 -> 211384000 (260908002) View
260908002 \|Course (attribute)\|	211384000 \|Multiple superficial injuries of lower leg (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (227815020) - 49013001 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (227818022) - 49013001 -> 237755009 (116680003) View
116680003 \|Is a (attribute)\|	237755009 \|Congenital adrenal hyperplasia - desmolase deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (227821024) - 49013001 -> 86095007 (116680003) View
116680003 \|Is a (attribute)\|	86095007 \|Inborn error of metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
78548001 View
78548001	Enzymopathy (disorder)	Enzymopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
86095007 View
86095007	Inborn error of metabolism (disorder)	Inborn error of metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237755009 View
237755009	Congenital adrenal hyperplasia - desmolase deficiency (disorder)	Cah - desmolase deficiency	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 (1d6a9365-6d56-50af-8003-4b937a19f483) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E25.0	TRUE	ALWAYS E25.0 \| POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE	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 (626d50e6-7426-5e60-b1bb-9091a0e73257) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E29.1	TRUE	ALWAYS E29.1 \| POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE	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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