dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 89392001

Production

add

Component

89392001

The component that hold information about this concept.

Fully Specified Name (FSN)

Prader-willi syndrome (disorder)

Shortest Term

Prader-willi 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

Prader-willi syndrome (disorder)

SCTID: 89392001, Primitive, Active

89392001|Prader-willi syndrome (disorder)|

en Prader labhart willi syndrome
en Prader-willi syndrome (disorder)
en Prader-willi syndrome

Expression

89392001 |Prader-willi syndrome (disorder)|
 <<< 722944006 |Congenital hypogonadotropic hypogonadism (disorder)| + 
1359763002 |Genetic syndromic childhood obesity (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| + 
700364009 |Neurodevelopmental disorder (disorder)| : 
        { 363698007 |Finding site (attribute)| = 304041004 |Gonadal endocrine structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 52618001 |Structure of pars distalis of pituitary (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 363808001 |Body weight measure (observable entity)| }
        { 246454002 |Occurrence (attribute)| = 255398004 |Childhood (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3793256012 - Prader Labhart Willi syndrome (en) View
3793256012	en	Synonym (core metadata concept)	Prader Labhart Willi syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
832276019 - Prader-Willi syndrome (disorder) (en) View
832276019	en	Fully specified name (core metadata concept)	Prader-Willi syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
148214012 - Prader-Willi syndrome (en) View
148214012	en	Synonym (core metadata concept)	Prader-Willi syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (12096538027) - 89392001 -> 782964007 (116680003) View
116680003 \|Is a (attribute)\|	782964007 \|Genetic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16331367023) - 89392001 -> 1359763002 (116680003) View
116680003 \|Is a (attribute)\|	1359763002 \|Genetic syndromic childhood obesity (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16331368029) - 89392001 -> 255398004 (246454002) View
246454002 \|Occurrence (attribute)\|	255398004 \|Childhood (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16331369021) - 89392001 -> 363808001 (363714003) View
363714003 \|Interprets (attribute)\|	363808001 \|Body weight measure (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16331370022) - 89392001 -> 281302008 (363713009) View
363713009 \|Has interpretation (attribute)\|	281302008 \|Above reference range (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (294238028) - 89392001 -> 16569009 (116680003) View
116680003 \|Is a (attribute)\|	16569009 \|Anomaly of chromosome pair 15 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (294239020) - 89392001 -> 64162006 (116680003) View
116680003 \|Is a (attribute)\|	64162006 \|Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4989070028) - 89392001 -> 71678009 (363698007) View
363698007 \|Finding site (attribute)\|	71678009 \|Chromosome pair 15 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5012533021) - 89392001 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12096537021) - 89392001 -> 722944006 (116680003) View
116680003 \|Is a (attribute)\|	722944006 \|Congenital hypogonadotropic hypogonadism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12096539024) - 89392001 -> 700364009 (116680003) View
116680003 \|Is a (attribute)\|	700364009 \|Neurodevelopmental disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12096540021) - 89392001 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12096541020) - 89392001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12096542029) - 89392001 -> 52618001 (363698007) View
363698007 \|Finding site (attribute)\|	52618001 \|Structure of pars distalis of pituitary (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12096543023) - 89392001 -> 304041004 (363698007) View
363698007 \|Finding site (attribute)\|	304041004 \|Gonadal endocrine structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5026553022) - 89392001 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10516265029) - 89392001 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10516266028) - 89392001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (898727025) - 89392001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2271053026) - 89392001 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4989068021) - 89392001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4996059022) - 89392001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3418930020) - 89392001 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3418931024) - 89392001 -> 71678009 (363698007) View
363698007 \|Finding site (attribute)\|	71678009 \|Chromosome pair 15 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (898725022) - 89392001 -> 71678009 (363698007) View
363698007 \|Finding site (attribute)\|	71678009 \|Chromosome pair 15 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2603645026) - 89392001 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (898728024) - 89392001 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (898729027) - 89392001 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (898726023) - 89392001 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1359763002 View
1359763002	Genetic syndromic childhood obesity (disorder)	Genetic syndromic childhood obesity	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722944006 View
722944006	Congenital hypogonadotropic hypogonadism (disorder)	Congenital hypogonadotropic hypogonadism	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
700364009 View
700364009	Neurodevelopmental disorder (disorder)	Neurodevelopmental disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	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 (c90438ec-1ff0-538b-bae5-1c61eeb5789d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.1	TRUE	ALWAYS Q87.1	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)\|

Terminology chevron_right Concepts chevron_right 89392001

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches