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Terminology chevron_right Concepts chevron_right 721846006

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Component

721846006

The component that hold information about this concept.

Fully Specified Name (FSN)

Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder)

Shortest Term

4h syndrome

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

Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder)

SCTID: 721846006, Primitive, Active

721846006|Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder)|

en Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome
en Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder)
en 4h syndrome

Expression

721846006 |Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder)|
 <<< 64969001 |Partial congenital absence of teeth (disorder)| + 
1208933000 |4h leukodystrophy (disorder)| + 
128285007 |Chronic disease of teeth and/or supporting structures (disorder)| + 
128290005 |Chronic disease of genitourinary system (disorder)| + 
763597000 |Hereditary ataxia (disorder)| + 
78689005 |Chronic brain syndrome (disorder)| + 
85102008 |Cerebellar ataxia (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 418560003 |Absence (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 38199008 |Tooth structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 113305005 |Cerebellar structure (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 125495003 |Myelin sheath alteration (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 54115001 |Myelinated nerve fiber structure (body structure)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 1303291008 |Abnormal number (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 38199008 |Tooth structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 389080008 |White matter structure of brain and spinal cord (body structure)| }
        { 363698007 |Finding site (attribute)| = 304041004 |Gonadal endocrine structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 52618001 |Structure of pars distalis of pituitary (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3324748017 - Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (en) View
3324748017	en	Synonym (core metadata concept)	Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3324747010 - Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) (en) View
3324747010	en	Fully specified name (core metadata concept)	Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3326240013 - 4H syndrome (en) View
3326240013	en	Synonym (core metadata concept)	4H syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6762354028) - 721846006 -> 61295008 (116676008) View
116676008 \|Associated morphology (attribute)\|	61295008 \|Congenital abnormal number (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15888329027) - 721846006 -> 1303291008 (116676008) View
116676008 \|Associated morphology (attribute)\|	1303291008 \|Abnormal number (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6761211021) - 721846006 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6761212025) - 721846006 -> 192781003 (116680003) View
116680003 \|Is a (attribute)\|	192781003 \|Leukodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6761213024) - 721846006 -> 363104002 (116680003) View
116680003 \|Is a (attribute)\|	363104002 \|Hereditary disorder of endocrine system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6761214029) - 721846006 -> 363290007 (116680003) View
116680003 \|Is a (attribute)\|	363290007 \|Reproductive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7112455020) - 721846006 -> 722944006 (116680003) View
116680003 \|Is a (attribute)\|	722944006 \|Congenital hypogonadotropic hypogonadism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7112458022) - 721846006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7112459025) - 721846006 -> 52618001 (363698007) View
363698007 \|Finding site (attribute)\|	52618001 \|Structure of pars distalis of pituitary (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10526739028) - 721846006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10526741027) - 721846006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10596300028) - 721846006 -> 304041004 (363698007) View
363698007 \|Finding site (attribute)\|	304041004 \|Gonadal endocrine structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10596301029) - 721846006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10596302020) - 721846006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12091459020) - 721846006 -> 106018006 (116680003) View
116680003 \|Is a (attribute)\|	106018006 \|Hereditary degenerative disease of central nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13883132024) - 721846006 -> 234951001 (116680003) View
116680003 \|Is a (attribute)\|	234951001 \|Developmental absence of tooth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13895700027) - 721846006 -> 91922000 (116680003) View
116680003 \|Is a (attribute)\|	91922000 \|Congenital absence of jaw (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13895701028) - 721846006 -> 91946007 (116680003) View
116680003 \|Is a (attribute)\|	91946007 \|Congenital absence of mouth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15101615021) - 721846006 -> 1208933000 (116680003) View
116680003 \|Is a (attribute)\|	1208933000 \|4h leukodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15101616022) - 721846006 -> 128285007 (116680003) View
116680003 \|Is a (attribute)\|	128285007 \|Chronic disease of teeth and/or supporting structures (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15101617029) - 721846006 -> 128290005 (116680003) View
116680003 \|Is a (attribute)\|	128290005 \|Chronic disease of genitourinary system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15101618023) - 721846006 -> 763597000 (116680003) View
116680003 \|Is a (attribute)\|	763597000 \|Hereditary ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15101619026) - 721846006 -> 78689005 (116680003) View
116680003 \|Is a (attribute)\|	78689005 \|Chronic brain syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15101620021) - 721846006 -> 85102008 (116680003) View
116680003 \|Is a (attribute)\|	85102008 \|Cerebellar ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15101621020) - 721846006 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15101622029) - 721846006 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15101623023) - 721846006 -> 304041004 (363698007) View
363698007 \|Finding site (attribute)\|	304041004 \|Gonadal endocrine structure (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15101624028) - 721846006 -> 52618001 (363698007) View
363698007 \|Finding site (attribute)\|	52618001 \|Structure of pars distalis of pituitary (body structure)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6761208020) - 721846006 -> 26624006 (116680003) View
116680003 \|Is a (attribute)\|	26624006 \|Anodontia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6761219023) - 721846006 -> 302214001 (363698007) View
363698007 \|Finding site (attribute)\|	302214001 \|Entire tooth (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10526742023) - 721846006 -> 302214001 (363698007) View
363698007 \|Finding site (attribute)\|	302214001 \|Entire tooth (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13894306028) - 721846006 -> 38199008 (363698007) View
363698007 \|Finding site (attribute)\|	38199008 \|Tooth structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13894307021) - 721846006 -> 38199008 (363698007) View
363698007 \|Finding site (attribute)\|	38199008 \|Tooth structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549028028) - 721846006 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13182761026) - 721846006 -> 418560003 (116676008) View
116676008 \|Associated morphology (attribute)\|	418560003 \|Absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9464141024) - 721846006 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6761217020) - 721846006 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6762611027) - 721846006 -> 61295008 (116676008) View
116676008 \|Associated morphology (attribute)\|	61295008 \|Congenital abnormal number (morphologic abnormality)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6762612023) - 721846006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6762613029) - 721846006 -> 302214001 (363698007) View
363698007 \|Finding site (attribute)\|	302214001 \|Entire tooth (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7115931026) - 721846006 -> 52618001 (363698007) View
363698007 \|Finding site (attribute)\|	52618001 \|Structure of pars distalis of pituitary (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7115932022) - 721846006 -> 304041004 (363698007) View
363698007 \|Finding site (attribute)\|	304041004 \|Gonadal endocrine structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10526746021) - 721846006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6766169021) - 721846006 -> 125495003 (116676008) View
116676008 \|Associated morphology (attribute)\|	125495003 \|Myelin sheath alteration (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6766170022) - 721846006 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9464143022) - 721846006 -> 389080008 (363698007) View
363698007 \|Finding site (attribute)\|	389080008 \|White matter structure of brain and spinal cord (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9485268029) - 721846006 -> 125495003 (116676008) View
116676008 \|Associated morphology (attribute)\|	125495003 \|Myelin sheath alteration (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9485269021) - 721846006 -> 54115001 (363698007) View
363698007 \|Finding site (attribute)\|	54115001 \|Myelinated nerve fiber structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6761209028) - 721846006 -> 33927004 (116680003) View
116680003 \|Is a (attribute)\|	33927004 \|Hypogonadotropic hypogonadism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6761215028) - 721846006 -> 52618001 (363698007) View
363698007 \|Finding site (attribute)\|	52618001 \|Structure of pars distalis of pituitary (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6761216027) - 721846006 -> 304041004 (363698007) View
363698007 \|Finding site (attribute)\|	304041004 \|Gonadal endocrine structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7112456021) - 721846006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6761210022) - 721846006 -> 64969001 (116680003) View
116680003 \|Is a (attribute)\|	64969001 \|Partial congenital absence of teeth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6761218026) - 721846006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6766168029) - 721846006 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1208933000 View
1208933000	4h leukodystrophy (disorder)	4h leucodystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
64969001 View
64969001	Partial congenital absence of teeth (disorder)	Hypodontia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
128285007 View
128285007	Chronic disease of teeth and/or supporting structures (disorder)	Chronic disease of teeth and/or supporting structures	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
85102008 View
85102008	Cerebellar ataxia (disorder)	Cerebellar ataxia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
763597000 View
763597000	Hereditary ataxia (disorder)	Hereditary ataxia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128290005 View
128290005	Chronic disease of genitourinary system (disorder)	Chronic disease of genitourinary system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
78689005 View
78689005	Chronic brain syndrome (disorder)	Chronic brain syndrome	900000000000073002 \|Sufficiently defined by necessary conditions 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 (0c9ec8c4-848b-5ff5-9301-0129dfa3ccf2) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E23.0	TRUE	ALWAYS E23.0	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 (a8a8315d-1804-5f14-bc0a-ddcee6bc6680) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G11.1	TRUE	ALWAYS G11.1 \| 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)\|
ExtendedMap object (ac85290b-e22a-5d9e-a0ab-cf0b51589ed2) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	K00.0	TRUE	ALWAYS K00.0	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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