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Terminology chevron_right Concepts chevron_right 1145402008

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Component

1145402008

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital macrocephaly (disorder)

Shortest Term

Congenital macrocephaly

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

Congenital macrocephaly (disorder)

SCTID: 1145402008, Defined, Active

1145402008|Congenital macrocephaly (disorder)|

en Congenital macrocephaly
en Congenital macrocephaly (disorder)

Expression

1145402008 |Congenital macrocephaly (disorder)|
 === 87290003 |Congenital anomaly of head (disorder)| + 
1145403003 |Macrocephaly (finding)| : 
        { 116676008 |Associated morphology (attribute)| = 442021009 |Enlargement (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)| }
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 363812007 |Head circumference (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4545799011 - Congenital macrocephaly (en) View
4545799011	en	Synonym (core metadata concept)	Congenital macrocephaly	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4545798015 - Congenital macrocephaly (disorder) (en) View
4545798015	en	Fully specified name (core metadata concept)	Congenital macrocephaly (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13677826024) - 1145402008 -> 87290003 (116680003) View
116680003 \|Is a (attribute)\|	87290003 \|Congenital anomaly of head (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13677828020) - 1145402008 -> 442021009 (116676008) View
116676008 \|Associated morphology (attribute)\|	442021009 \|Enlargement (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13677829028) - 1145402008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13677830022) - 1145402008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13677832025) - 1145402008 -> 363812007 (363714003) View
363714003 \|Interprets (attribute)\|	363812007 \|Head circumference (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13677833024) - 1145402008 -> 281302008 (363713009) View
363713009 \|Has interpretation (attribute)\|	281302008 \|Above reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13677910024) - 1145402008 -> 1145403003 (116680003) View
116680003 \|Is a (attribute)\|	1145403003 \|Macrocephaly (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13689257025) - 1145402008 -> 69536005 (363698007) View
363698007 \|Finding site (attribute)\|	69536005 \|Head structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1145403003 View
1145403003	Macrocephaly (finding)	Macrocephaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
87290003 View
87290003	Congenital anomaly of head (disorder)	Congenital anomaly of head	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1332382002 View
1332382002	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	Commad syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1260143005 View
1260143005	Megalencephaly, severe kyphoscoliosis, overgrowth syndrome (disorder)	Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1254652005 View
1254652005	Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome (disorder)	Ppp2r5d-related intellectual disability	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1208720000 View
1208720000	Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)	7q36.3 microduplication syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187304005 View
1187304005	Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder)	Minds syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1172705006 View
1172705006	Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder)	Lethal hydranencephaly, diaphragmatic hernia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783089006 View
783089006	Macrocephaly, intellectual disability, autism syndrome (disorder)	Macrocephaly, intellectual disability, autism syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770750002 View
770750002	Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Intellectual disability, seizures, macrocephaly, obesity syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763773007 View
763773007	Macrocephaly and developmental delay syndrome (disorder)	Macrocephaly and developmental delay syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763795006 View
763795006	Malan overgrowth syndrome (disorder)	Sotos syndrome 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763863002 View
763863002	Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder)	Zori stalker williams syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724137002 View
724137002	Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)	Momo syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733417008 View
733417008	Facial dysmorphism, macrocephaly, myopia, dandy-walker malformation syndrome (disorder)	Facial dysmorphism, macrocephaly, myopia, dandy-walker malformation syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
718577005 View
718577005	X-linked intellectual disability atkin type (disorder)	Atkin flaitz syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
718896000 View
718896000	X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719825000 View
719825000	X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Johnson syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722033000 View
722033000	Macrocephaly, short stature, paraplegia syndrome (disorder)	Volcke soekarman syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722122000 View
722122000	Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)	Ring finger protein 135 related overgrowth syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716108004 View
716108004	Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Fryns macrocephaly	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234138005 View
234138005	Bannayan syndrome (disorder)	Bannayan syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (5eed8a3d-8e6d-5fda-b840-68eb617a8949) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q75.3	TRUE	ALWAYS Q75.3	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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