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Terminology chevron_right Concepts chevron_right 48637007

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Component

48637007

The component that hold information about this concept.

Fully Specified Name (FSN)

Multiple malformation syndrome with early overgrowth (disorder)

Shortest Term

Multiple malformation syndrome with early overgrowth

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

Multiple malformation syndrome with early overgrowth (disorder)

SCTID: 48637007, Primitive, Active

48637007|Multiple malformation syndrome with early overgrowth (disorder)|

en Multiple malformation syndrome with early overgrowth
en Multiple malformation syndrome with early overgrowth (disorder)

Expression

48637007 |Multiple malformation syndrome with early overgrowth (disorder)|
 <<< 82354003 |Multiple system malformation syndrome (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
81045014 - Multiple malformation syndrome with early overgrowth (en) View
81045014	en	Synonym (core metadata concept)	Multiple malformation syndrome with early overgrowth	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
786227010 - Multiple malformation syndrome with early overgrowth (disorder) (en) View
786227010	en	Fully specified name (core metadata concept)	Multiple malformation syndrome with early overgrowth (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
81046010 - Multiple malformation syndrome with early overgrowth, NOS (en) View
81046010	en	Synonym (core metadata concept)	Multiple malformation syndrome with early overgrowth, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (5020552022) - 48637007 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10523964029) - 48637007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10523965028) - 48637007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (793720025) - 48637007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2267529020) - 48637007 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4997205023) - 48637007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (227209028) - 48637007 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1340176000 View
1340176000	Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder)	Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1304276001 View
1304276001	Chromodomain helicase dna binding protein 8 overgrowth syndrome (disorder)	Chd8 overgrowth syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1304277005 View
1304277005	Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to h1.4 linker histone, cluster member mutation (disorder)	Rahman syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1293116008 View
1293116008	Diffuse capillary malformation with overgrowth (disorder)	Diffuse capillary malformation with overgrowth	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
1169359006 View
1169359006	Tall stature, intellectual disability, renal anomalies syndrome (disorder)	Thauvin robinet faivre syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1169362009 View
1169362009	Overgrowth syndrome with 2q37 translocation (disorder)	Overgrowth syndrome with 2q37 translocation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1169363004 View
1169363004	Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder)	Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1172898008 View
1172898008	Kosaki overgrowth syndrome (disorder)	Kosaki overgrowth syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
782722002 View
782722002	Global developmental delay, lung cysts, overgrowth, wilms tumor syndrome (disorder)	Glow syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
787094005 View
787094005	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia (disorder)	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770788000 View
770788000	Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder)	Tall stature, scoliosis, macrodactyly of hallux syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771477003 View
771477003	15q overgrowth syndrome (disorder)	15q overgrowth syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773282001 View
773282001	Macrosomia, microphthalmia, cleft palate syndrome (disorder)	Teebi al saleh hassoon 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
768843007 View
768843007	Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)	Tatton brown rahman syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
737037004 View
737037004	Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome (disorder)	Pik3ca related overgrowth syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723991007 View
723991007	Angio-osteohypertrophic syndrome (disorder)	Angioosteohypertrophic 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
717765001 View
717765001	Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder)	Clapo 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
722231005 View
722231005	Perlman syndrome (disorder)	Perlman syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722859001 View
722859001	Pten hamartoma tumor syndrome (disorder)	Pten hamartoma tumor syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
439143004 View
439143004	Simpson-golabi-behmel syndrome (disorder)	Bulldog syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
23150001 View
23150001	Proteus syndrome (disorder)	Proteus syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
63119004 View
63119004	Weaver syndrome (disorder)	Weaver syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
73284007 View
73284007	Marshall-smith syndrome (disorder)	Marshall-smith syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
75968004 View
75968004	Sotos' syndrome (disorder)	Soto syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
81780002 View
81780002	Beckwith-wiedemann syndrome (disorder)	Beckwith's 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 (18b8bf43-463f-514c-b5cb-cd4ba904e1a5) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.3	TRUE	ALWAYS Q87.3	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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