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Terminology chevron_right Concepts chevron_right 724067006

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Component

724067006

The component that hold information about this concept.

Fully Specified Name (FSN)

Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)

Shortest Term

Pancreatic and cerebellar agenesis 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

Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)

SCTID: 724067006, Primitive, Active

724067006|Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)|

en Pancreatic and cerebellar agenesis syndrome
en Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
en Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)

Expression

724067006 |Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)|
 <<< 253172000 |Agenesis of cerebellum (disorder)| + 
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
363104002 |Hereditary disorder of endocrine system (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
609565001 |Permanent neonatal diabetes mellitus (disorder)| + 
87536007 |Central nervous system complication (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89545001 |Face structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 782173000 |Agenesis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 180924008 |Entire cerebellum (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 113331007 |Structure of endocrine system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 246454002 |Occurrence (attribute)| = 3658006 |Infancy (qualifier value)| }
        { 42752001 |Due to (attribute)| = 782964007 |Genetic disease (disorder)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3481744012 - Pancreatic and cerebellar agenesis syndrome (en) View
3481744012	en	Synonym (core metadata concept)	Pancreatic and cerebellar agenesis syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3481743018 - Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (en) View
3481743018	en	Synonym (core metadata concept)	Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3481742011 - Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) (en) View
3481742011	en	Fully specified name (core metadata concept)	Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16418096025) - 724067006 -> 87536007 (116680003) View
116680003 \|Is a (attribute)\|	87536007 \|Central nervous system complication (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16418097023) - 724067006 -> 782964007 (42752001) View
42752001 \|Due to (attribute)\|	782964007 \|Genetic disease (disorder)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069459026) - 724067006 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6880487028) - 724067006 -> 3658006 (246454002) View
246454002 \|Occurrence (attribute)\|	3658006 \|Infancy (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6880490023) - 724067006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6880493020) - 724067006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6884471020) - 724067006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6884472029) - 724067006 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7112507023) - 724067006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7114731026) - 724067006 -> 113331007 (363698007) View
363698007 \|Finding site (attribute)\|	113331007 \|Structure of endocrine system (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7114732022) - 724067006 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7114733028) - 724067006 -> 180924008 (363698007) View
363698007 \|Finding site (attribute)\|	180924008 \|Entire cerebellum (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10531478021) - 724067006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531480026) - 724067006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531482023) - 724067006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531483029) - 724067006 -> 113331007 (363698007) View
363698007 \|Finding site (attribute)\|	113331007 \|Structure of endocrine system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531484024) - 724067006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531486021) - 724067006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531488022) - 724067006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549316028) - 724067006 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549318027) - 724067006 -> 180924008 (363698007) View
363698007 \|Finding site (attribute)\|	180924008 \|Entire cerebellum (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549319024) - 724067006 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11183285025) - 724067006 -> 782173000 (116676008) View
116676008 \|Associated morphology (attribute)\|	782173000 \|Agenesis (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6880481027) - 724067006 -> 65094009 (116680003) View
116680003 \|Is a (attribute)\|	65094009 \|Multiple malformation syndrome with facial defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6880482023) - 724067006 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6880483029) - 724067006 -> 253172000 (116680003) View
116680003 \|Is a (attribute)\|	253172000 \|Agenesis of cerebellum (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6880484024) - 724067006 -> 363104002 (116680003) View
116680003 \|Is a (attribute)\|	363104002 \|Hereditary disorder of endocrine system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6880485020) - 724067006 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6880486021) - 724067006 -> 609565001 (116680003) View
116680003 \|Is a (attribute)\|	609565001 \|Permanent neonatal diabetes mellitus (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
87536007 View
87536007	Central nervous system complication (disorder)	Central nervous system complication	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
609565001 View
609565001	Permanent neonatal diabetes mellitus (disorder)	Permanent neonatal diabetes mellitus	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
253172000 View
253172000	Agenesis of cerebellum (disorder)	Agenesis of cerebellum	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
65094009 View
65094009	Multiple malformation syndrome with facial defects as major feature (disorder)	Multiple malformation syndrome with facial defects as major feature	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
363104002 View
363104002	Hereditary disorder of endocrine system (disorder)	Hereditary disorder of endocrine system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of nervous system	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 (0f59e433-f34a-5319-88cc-9d44a1866e76) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	P70.2	TRUE	ALWAYS P70.2 \| 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 (2ef45ac0-9c5a-5b6f-94a3-3097b6aeb19b) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q04.3	TRUE	ALWAYS Q04.3	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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