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Terminology chevron_right Concepts chevron_right 77701002

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Component

77701002

The component that hold information about this concept.

Fully Specified Name (FSN)

Multiple malformation syndrome, moderate short stature, facial (disorder)

Shortest Term

Multiple malformation syndrome, moderate short stature, facial

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, moderate short stature, facial (disorder)

SCTID: 77701002, Primitive, Active

77701002|Multiple malformation syndrome, moderate short stature, facial (disorder)|

en Multiple malformation syndrome, moderate short stature, facial
en Multiple malformation syndrome, moderate short stature, facial (disorder)
en Multiple malformation syndrome, moderate short stature, facial with or without genital features

Expression

77701002 |Multiple malformation syndrome, moderate short stature, facial (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
128959018 - Multiple malformation syndrome, moderate short stature, facial (en) View
128959018	en	Synonym (core metadata concept)	Multiple malformation syndrome, moderate short stature, facial	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
818561014 - Multiple malformation syndrome, moderate short stature, facial (disorder) (en) View
818561014	en	Fully specified name (core metadata concept)	Multiple malformation syndrome, moderate short stature, facial (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
128961010 - Multiple malformation syndrome, moderate short stature, facial with or without genital features (en) View
128961010	en	Synonym (core metadata concept)	Multiple malformation syndrome, moderate short stature, facial with or without genital features	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
128960011 - Multiple malformation syndrome, moderate short stature, facial with or without genital features, NOS (en) View
128960011	en	Synonym (core metadata concept)	Multiple malformation syndrome, moderate short stature, facial with or without genital features, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (5019702020) - 77701002 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10529992029) - 77701002 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10529993023) - 77701002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (868234024) - 77701002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2270030020) - 77701002 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4995244025) - 77701002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (274358022) - 77701002 -> 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
723444009 View
723444009	Noonan syndrome-like disorder with loose anagen hair (disorder)	Tosti syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716192009 View
716192009	Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)	Thong douglas ferrante syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716193004 View
716193004	Short stature with valvular heart disease and characteristic facies syndrome (disorder)	Short stature with valvular heart disease and characteristic facies syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
14921002 View
14921002	Aarskog syndrome (disorder)	Aarskog syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
39401000 View
39401000	Dolichocephalic dwarfism (disorder)	Dolichocephalic dwarfism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
43929004 View
43929004	Smith-lemli-opitz syndrome (disorder)	Smith-lemli-opitz syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
81771002 View
81771002	Opitz-frias syndrome (disorder)	G syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205824006 View
205824006	Noonan's syndrome (disorder)	Noonan 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 (a9d87a57-c58a-521c-a8dc-b8212fbb4dc5) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.1	IFA 43929004 \| Smith-Lemli-Opitz syndrome (disorder) \|	IF SMITH-LEMLI-OPITZ SYNDROME CHOOSE Q87.1 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (d15676ca-b8a2-5ff6-9a9a-065519b5be5f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8	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 (e9ed7c72-bfe3-58c6-bfa4-6b8e21ab0eef) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	OTHERWISE TRUE	ALWAYS Q87.8	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 (ffe231d5-9625-5584-aa52-ba822c09296b) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.1	IFA 14921002 \| Aarskog syndrome (disorder) \|	IF AARSKOG SYNDROME CHOOSE Q87.1 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|

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