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Terminology chevron_right Concepts chevron_right 1148757008

Production

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Component

1148757008

The component that hold information about this concept.

Fully Specified Name (FSN)

Microcephaly (finding)

Shortest Term

Microcephaly

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

Microcephaly (finding)

SCTID: 1148757008, Defined, Active

1148757008|Microcephaly (finding)|

vi Đầu nhỏ (phát hiện)
en Microcephalus
en Microcephaly
en Microcephaly (finding)

Expression

1148757008 |Microcephaly (finding)|
 === 301338002 |Finding of head circumference (finding)| : 
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 363812007 |Head circumference (observable entity)| }
        { 363698007 |Finding site (attribute)| = 69536005 |Head structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2022883 - Đầu nhỏ (phát hiện) (vi) View
2022883	vi	Synonym (core metadata concept)	Đầu nhỏ (phát hiện)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4551752019 - Microcephalus (en) View
4551752019	en	Synonym (core metadata concept)	Microcephalus	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
4551753012 - Microcephaly (en) View
4551753012	en	Synonym (core metadata concept)	Microcephaly	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4551751014 - Microcephaly (finding) (en) View
4551751014	en	Fully specified name (core metadata concept)	Microcephaly (finding)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13715454020) - 1148757008 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13715456022) - 1148757008 -> 363812007 (363714003) View
363714003 \|Interprets (attribute)\|	363812007 \|Head circumference (observable entity)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13715512020) - 1148757008 -> 301338002 (116680003) View
116680003 \|Is a (attribute)\|	301338002 \|Finding of head circumference (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13715513026) - 1148757008 -> 69536005 (363698007) View
363698007 \|Finding site (attribute)\|	69536005 \|Head structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
301338002 View
301338002	Finding of head circumference (finding)	Finding of head circumference	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1142005008 View
1142005008	Mild microcephaly (finding)	Mild microcephaly	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1142008005 View
1142008005	Progressive microcephaly (disorder)	Progressive microcephaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1300128003 View
1300128003	Methenyltetrahydrofolate synthetase-related developmental delay, microcephaly, short stature, epilepsy syndrome (disorder)	Mthfs-related developmental delay, microcephaly, short stature, epilepsy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1300188000 View
1300188000	Congenital pontocerebellar hypoplasia type 11 (disorder)	Pch11 - pontocerebellar hypoplasia type 11	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1260095004 View
1260095004	Menke hennekam syndrome (disorder)	Menke hennekam syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1237418002 View
1237418002	Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome (disorder)	Asct1 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1237421000 View
1237421000	Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy (disorder)	Pycr2-related microcephaly, progressive leucoencephalopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1237619001 View
1237619001	Fatty acyl-coenzyme a reductase 1 deficiency (disorder)	Far1 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1251449006 View
1251449006	Ubiquitin specific peptidase 18 deficiency (disorder)	Usp18 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1217367007 View
1217367007	Phospholipase a2 activating protein-associated neurodevelopmental disorder (disorder)	Plaa-associated neurodevelopmental disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1208481000 View
1208481000	Progressive cerebello-cerebral atrophy (disorder)	Progressive cerebello-cerebral atrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1208747005 View
1208747005	Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder)	Martsolf-like syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1197059004 View
1197059004	Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)	Congenital ichthyosis, microcephalus, tetraplegia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1197148005 View
1197148005	Sanjad sakati syndrome (disorder)	Sanjad sakati syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1177178005 View
1177178005	Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder)	Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1179282009 View
1179282009	Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract (disorder)	Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1169356004 View
1169356004	Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder)	Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1172683008 View
1172683008	Microcephaly, congenital cataract, psoriasiform dermatitis syndrome (disorder)	Sterol-c4-methyl oxidase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1172900005 View
1172900005	Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome (disorder)	Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1173998003 View
1173998003	Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome (disorder)	Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome	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
770721009 View
770721009	Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)	Microcephaly, thin corpus callosum, intellectual disability syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770725000 View
770725000	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (disorder)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771074000 View
771074000	Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771303004 View
771303004	Severe neonatal onset encephalopathy with microcephaly (disorder)	Mecp2-related severe neonatal encephalopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
774149004 View
774149004	Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)	Iqsec2-related syndromic intellectual disability	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
717185008 View
717185008	Deficiency of leukotriene c4 synthase (disorder)	Leukotriene c4 synthase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
702354007 View
702354007	X-linked intellectual developmental disorder christianson type (disorder)	Christianson syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
431265009 View
431265009	Fetal microcephaly (disorder)	Fetal microcephaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
314643009 View
314643009	Child head circumference < 0.4th centile (finding)	Child hc < 0.4th centile	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
314644003 View
314644003	Child head circumference = 0.4th centile (finding)	Child hc = 0.4th centile	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
314645002 View
314645002	Child head circumference 0.5th - 1.9th centile (finding)	Child hc 0.5th - 1.9th centile	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
314646001 View
314646001	Child head circumference equal to 2nd centile (finding)	Child hc = 2nd centile	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 (1531e45b-52a2-51ff-b828-ab7e13ad6912) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q02	TRUE	ALWAYS Q02	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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