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Terminology chevron_right Concepts chevron_right 237889002

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Component

237889002

The component that hold information about this concept.

Fully Specified Name (FSN)

Autosomal dominant hypophosphatemic rickets (disorder)

Shortest Term

Autosomal dominant hypophosphatemic rickets

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

Autosomal dominant hypophosphatemic rickets (disorder)

SCTID: 237889002, Defined, Active

237889002|Autosomal dominant hypophosphatemic rickets (disorder)|

en Autosomal dominant hypophosphataemic rickets
en Autosomal dominant hypophosphatemic rickets
en Autosomal dominant hypophosphatemic rickets (disorder)

Expression

237889002 |Autosomal dominant hypophosphatemic rickets (disorder)|
 === 35524003 |Arthropathy associated with another disorder (disorder)| + 
237890006 |Autosomal dominant hypophosphatemic bone disease (disorder)| + 
41345002 |Rickets (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 39365008 |Osteoid tissue (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 128416000 |Impaired mineralization (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 272673000 |Bone structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 42752001 |Due to (attribute)| = 236470002 |Specific renal tubule transport defect (disorder)| }
        { 363713009 |Has interpretation (attribute)| = 260372006 |Deficient (qualifier value)|,
363714003 |Interprets (attribute)| = 128417009 |Physiologic mineralization of bone, function (observable entity)| }
        { 363698007 |Finding site (attribute)| = 711190000 |Structure of epiphyseal plate (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
356514011 - Autosomal dominant hypophosphataemic rickets (en) View
356514011	en	Synonym (core metadata concept)	Autosomal dominant hypophosphataemic rickets	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
356513017 - Autosomal dominant hypophosphatemic rickets (en) View
356513017	en	Synonym (core metadata concept)	Autosomal dominant hypophosphatemic rickets	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
626683012 - Autosomal dominant hypophosphatemic rickets (disorder) (en) View
626683012	en	Fully specified name (core metadata concept)	Autosomal dominant hypophosphatemic rickets (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13909853023) - 237889002 -> 35524003 (116680003) View
116680003 \|Is a (attribute)\|	35524003 \|Arthropathy associated with another disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13909854028) - 237889002 -> 711190000 (363698007) View
363698007 \|Finding site (attribute)\|	711190000 \|Structure of epiphyseal plate (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13909855027) - 237889002 -> 128417009 (363714003) View
363714003 \|Interprets (attribute)\|	128417009 \|Physiologic mineralization of bone, function (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13909856026) - 237889002 -> 260372006 (363713009) View
363713009 \|Has interpretation (attribute)\|	260372006 \|Deficient (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3599228023) - 237889002 -> 236470002 (42752001) View
42752001 \|Due to (attribute)\|	236470002 \|Specific renal tubule transport defect (disorder)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4979692023) - 237889002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069691020) - 237889002 -> 128416000 (116676008) View
116676008 \|Associated morphology (attribute)\|	128416000 \|Impaired mineralization (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12069692029) - 237889002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12069693023) - 237889002 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12069694028) - 237889002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12877509023) - 237889002 -> 128416000 (116676008) View
116676008 \|Associated morphology (attribute)\|	128416000 \|Impaired mineralization (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12877510029) - 237889002 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12877511025) - 237889002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12877519028) - 237889002 -> 236470002 (42752001) View
42752001 \|Due to (attribute)\|	236470002 \|Specific renal tubule transport defect (disorder)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (526759020) - 237889002 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3411432029) - 237889002 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (526758028) - 237889002 -> 39365008 (363698007) View
363698007 \|Finding site (attribute)\|	39365008 \|Osteoid tissue (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5023383023) - 237889002 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5028751028) - 237889002 -> 39365008 (363698007) View
363698007 \|Finding site (attribute)\|	39365008 \|Osteoid tissue (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10527276021) - 237889002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527277028) - 237889002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (526762023) - 237889002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3411431020) - 237889002 -> 39365008 (363698007) View
363698007 \|Finding site (attribute)\|	39365008 \|Osteoid tissue (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1729748020) - 237889002 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (526760026) - 237889002 -> 64033007 (363698007) View
363698007 \|Finding site (attribute)\|	64033007 \|Kidney structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (526757022) - 237889002 -> 61496007 (363698007) View
363698007 \|Finding site (attribute)\|	61496007 \|Cartilaginous tissue structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (526761027) - 237889002 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1656705025) - 237889002 -> 67988000 (116680003) View
116680003 \|Is a (attribute)\|	67988000 \|Congenital anomaly of cartilage (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1656706029) - 237889002 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (53508020) - 237889002 -> 82236004 (116680003) View
116680003 \|Is a (attribute)\|	82236004 \|Familial x-linked hypophosphatemic vitamin d refractory rickets (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1656704026) - 237889002 -> 237890006 (116680003) View
116680003 \|Is a (attribute)\|	237890006 \|Autosomal dominant hypophosphatemic bone disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1656707022) - 237889002 -> 41345002 (116680003) View
116680003 \|Is a (attribute)\|	41345002 \|Rickets (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
237890006 View
237890006	Autosomal dominant hypophosphatemic bone disease (disorder)	Hypercalciuric rickets	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
35524003 View
35524003	Arthropathy associated with another disorder (disorder)	Arthropathy associated with another disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
41345002 View
41345002	Rickets (disorder)	Rickets	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 (1b82f998-e93e-5673-9ffa-21c8dc9d2182) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E83.3	TRUE	ALWAYS E83.3	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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