dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 782825008

Production

add

Component

782825008

The component that hold information about this concept.

Fully Specified Name (FSN)

Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome (disorder)

Shortest Term

Primary microcephaly, epilepsy, permanent neonatal diabetes 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

Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome (disorder)

SCTID: 782825008, Primitive, Active

782825008|Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome (disorder)|

en Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
en Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome (disorder)

Expression

782825008 |Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome (disorder)|
 <<< 1137472008 |Neurodevelopmental delay (disorder)| + 
87536007 |Central nervous system complication (disorder)| + 
224958001 |Global developmental delay (disorder)| + 
609565001 |Permanent neonatal diabetes mellitus (disorder)| + 
363104002 |Hereditary disorder of endocrine system (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
1148758003 |Congenital microcephaly (disorder)| + 
1275631007 |Developmental and epileptic encephalopathy (disorder)| + 
253130001 |Secondary microcephaly (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 1303834006 |Abnormal smallness (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 69536005 |Head structure (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)| = 3658006 |Infancy (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)|,
246454002 |Occurrence (attribute)| = 3658006 |Infancy (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)| = 169876006 |Birth head circumference (observable entity)| }
        { 42752001 |Due to (attribute)| = 782964007 |Genetic disease (disorder)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3756085012 - Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome (en) View
3756085012	en	Synonym (core metadata concept)	Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3756086013 - Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome (disorder) (en) View
3756086013	en	Fully specified name (core metadata concept)	Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16407839025) - 782825008 -> 1137472008 (116680003) View
116680003 \|Is a (attribute)\|	1137472008 \|Neurodevelopmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16418098029) - 782825008 -> 253130001 (116680003) View
116680003 \|Is a (attribute)\|	253130001 \|Secondary microcephaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16418099021) - 782825008 -> 87536007 (116680003) View
116680003 \|Is a (attribute)\|	87536007 \|Central nervous system complication (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16418100029) - 782825008 -> 782964007 (42752001) View
42752001 \|Due to (attribute)\|	782964007 \|Genetic disease (disorder)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226412021) - 782825008 -> 41086002 (116676008) View
116676008 \|Associated morphology (attribute)\|	41086002 \|Congenital smallness (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15898939029) - 782825008 -> 1303834006 (116676008) View
116676008 \|Associated morphology (attribute)\|	1303834006 \|Abnormal smallness (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226418020) - 782825008 -> 723125008 (116680003) View
116680003 \|Is a (attribute)\|	723125008 \|Epileptic encephalopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11575151023) - 782825008 -> 83678007 (363698007) View
363698007 \|Finding site (attribute)\|	83678007 \|Cerebral structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15611979022) - 782825008 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15611980020) - 782825008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15627493027) - 782825008 -> 1275631007 (116680003) View
116680003 \|Is a (attribute)\|	1275631007 \|Developmental and epileptic encephalopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226415023) - 782825008 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11226419028) - 782825008 -> 1829003 (116680003) View
116680003 \|Is a (attribute)\|	1829003 \|Microcephalus (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11226423020) - 782825008 -> 57148006 (116680003) View
116680003 \|Is a (attribute)\|	57148006 \|Congenital anomaly of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13752309027) - 782825008 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13752310021) - 782825008 -> 69536005 (363698007) View
363698007 \|Finding site (attribute)\|	69536005 \|Head structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13752311020) - 782825008 -> 169876006 (363714003) View
363714003 \|Interprets (attribute)\|	169876006 \|Birth head circumference (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13752312029) - 782825008 -> 1148758003 (116680003) View
116680003 \|Is a (attribute)\|	1148758003 \|Congenital microcephaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12876726024) - 782825008 -> 363104002 (116680003) View
116680003 \|Is a (attribute)\|	363104002 \|Hereditary disorder of endocrine system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069735021) - 782825008 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226410029) - 782825008 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226411025) - 782825008 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226414022) - 782825008 -> 3658006 (246454002) View
246454002 \|Occurrence (attribute)\|	3658006 \|Infancy (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226416024) - 782825008 -> 3658006 (246454002) View
246454002 \|Occurrence (attribute)\|	3658006 \|Infancy (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226417026) - 782825008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226420023) - 782825008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226421022) - 782825008 -> 224958001 (116680003) View
116680003 \|Is a (attribute)\|	224958001 \|Global developmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11226422026) - 782825008 -> 609565001 (116680003) View
116680003 \|Is a (attribute)\|	609565001 \|Permanent neonatal diabetes mellitus (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11575152027) - 782825008 -> 113331007 (363698007) View
363698007 \|Finding site (attribute)\|	113331007 \|Structure of endocrine system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1137472008 View
1137472008	Neurodevelopmental delay (disorder)	Neurodevelopmental delay	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1275631007 View
1275631007	Developmental and epileptic encephalopathy (disorder)	Developmental and epileptic encephalopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
253130001 View
253130001	Secondary microcephaly (disorder)	Secondary microcephaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1148758003 View
1148758003	Congenital microcephaly (disorder)	Congenital microcephaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
224958001 View
224958001	Global developmental delay (disorder)	Global developmental delay	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 (6ec7255a-7ac4-552e-a8fa-231aafd4e9bc) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q02	TRUE	ALWAYS Q02 \| 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 (6f8967ae-5955-59a4-b362-cba53608b21a) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8 \| 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)\|

Terminology chevron_right Concepts chevron_right 782825008

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches