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Terminology chevron_right Concepts chevron_right 782782004

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Component

782782004

The component that hold information about this concept.

Fully Specified Name (FSN)

Autosomal recessive spondylometaphyseal dysplasia megarbane type (disorder)

Shortest Term

Autosomal recessive spondylometaphyseal dysplasia megarbane type

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

Autosomal recessive spondylometaphyseal dysplasia megarbane type (disorder)

SCTID: 782782004, Primitive, Active

782782004|Autosomal recessive spondylometaphyseal dysplasia megarbane type (disorder)|

en Autosomal recessive spondylometaphyseal dysplasia megarbane type
en Autosomal recessive spondylometaphyseal dysplasia megarbane type (disorder)

Expression

782782004 |Autosomal recessive spondylometaphyseal dysplasia megarbane type (disorder)|
 <<< 784006008 |Spondylometaphyseal dysplasia (disorder)| + 
1263463009 |Rhizomelic dysplasia (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
237836003 |Short stature disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 48566001 |Bone structure of extremity (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 164835000 |Limb length (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 50373000 |Body height measure (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3755745017 - Autosomal recessive spondylometaphyseal dysplasia Megarbane type (en) View
3755745017	en	Synonym (core metadata concept)	Autosomal recessive spondylometaphyseal dysplasia Megarbane type	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
3755744018 - Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) (en) View
3755744018	en	Fully specified name (core metadata concept)	Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (11226229021) - 782782004 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11326927025) - 782782004 -> 8447006 (116680003) View
116680003 \|Is a (attribute)\|	8447006 \|Congenital anomaly of skeletal bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15500727027) - 782782004 -> 1263463009 (116680003) View
116680003 \|Is a (attribute)\|	1263463009 \|Rhizomelic dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15500728021) - 782782004 -> 164835000 (363714003) View
363714003 \|Interprets (attribute)\|	164835000 \|Limb length (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15500729029) - 782782004 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15500730023) - 782782004 -> 48566001 (363698007) View
363698007 \|Finding site (attribute)\|	48566001 \|Bone structure of extremity (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15500932024) - 782782004 -> 237836003 (116680003) View
116680003 \|Is a (attribute)\|	237836003 \|Short stature disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15500933025) - 782782004 -> 50373000 (363714003) View
363714003 \|Interprets (attribute)\|	50373000 \|Body height measure (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15500934020) - 782782004 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226227023) - 782782004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226228029) - 782782004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226230027) - 782782004 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226232024) - 782782004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11326926023) - 782782004 -> 784006008 (116680003) View
116680003 \|Is a (attribute)\|	784006008 \|Spondylometaphyseal dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1263463009 View
1263463009	Rhizomelic dysplasia (disorder)	Rhizomelic dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
784006008 View
784006008	Spondylometaphyseal dysplasia (disorder)	Spondylometaphyseal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237836003 View
237836003	Short stature disorder (disorder)	Dwarf	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 (662c7d7b-e0f8-5635-8efa-04c3de15d5bb) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q77.8	TRUE	ALWAYS Q77.8 \| 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)\|

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