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Terminology chevron_right Concepts chevron_right 77817004

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Component

77817004

The component that hold information about this concept.

Fully Specified Name (FSN)

Neu-laxova syndrome (disorder)

Shortest Term

Neu-laxova 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

Neu-laxova syndrome (disorder)

SCTID: 77817004, Primitive, Active

77817004|Neu-laxova syndrome (disorder)|

en 3-phosphoglycerate dehydrogenase deficiency neonatal form
en Neu-laxova syndrome
en Neu-laxova syndrome (disorder)
en Nls - neu-laxova syndrome

Expression

77817004 |Neu-laxova syndrome (disorder)|
 <<< 65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
1148758003 |Congenital microcephaly (disorder)| + 
402772005 |Autosomal recessive ichthyosis (disorder)| + 
303098002 |3-phosphoglycerate dehydrogenase deficiency (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 26996000 |Hyperkeratosis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 181469002 |Entire skin (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 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)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89545001 |Face structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
363714003 |Interprets (attribute)| = 44138005 |Keratinization, function (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 169876006 |Birth head circumference (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3788772015 - 3-phosphoglycerate dehydrogenase deficiency neonatal form (en) View
3788772015	en	Synonym (core metadata concept)	3-phosphoglycerate dehydrogenase deficiency neonatal form	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
129141014 - Neu-Laxova syndrome (en) View
129141014	en	Synonym (core metadata concept)	Neu-Laxova syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
818689017 - Neu-Laxova syndrome (disorder) (en) View
818689017	en	Fully specified name (core metadata concept)	Neu-Laxova syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
1234170016 - NLS - Neu-Laxova syndrome (en) View
1234170016	en	Synonym (core metadata concept)	NLS - Neu-Laxova syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (12090378027) - 77817004 -> 41086002 (116676008) View
116676008 \|Associated morphology (attribute)\|	41086002 \|Congenital smallness (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15898798027) - 77817004 -> 1303834006 (116676008) View
116676008 \|Associated morphology (attribute)\|	1303834006 \|Abnormal smallness (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (274548022) - 77817004 -> 1829003 (116680003) View
116680003 \|Is a (attribute)\|	1829003 \|Microcephalus (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4663303020) - 77817004 -> 57148006 (116680003) View
116680003 \|Is a (attribute)\|	57148006 \|Congenital anomaly of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12090376028) - 77817004 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12090379024) - 77817004 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13752266023) - 77817004 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13752267025) - 77817004 -> 69536005 (363698007) View
363698007 \|Finding site (attribute)\|	69536005 \|Head structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13752268024) - 77817004 -> 169876006 (363714003) View
363714003 \|Interprets (attribute)\|	169876006 \|Birth head circumference (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13752269027) - 77817004 -> 1148758003 (116680003) View
116680003 \|Is a (attribute)\|	1148758003 \|Congenital microcephaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (274547028) - 77817004 -> 64162006 (116680003) View
116680003 \|Is a (attribute)\|	64162006 \|Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6235016029) - 77817004 -> 41086002 (116676008) View
116676008 \|Associated morphology (attribute)\|	41086002 \|Congenital smallness (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6400159022) - 77817004 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10520791021) - 77817004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12090377021) - 77817004 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090380022) - 77817004 -> 402772005 (116680003) View
116680003 \|Is a (attribute)\|	402772005 \|Autosomal recessive ichthyosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090381021) - 77817004 -> 303098002 (116680003) View
116680003 \|Is a (attribute)\|	303098002 \|3-phosphoglycerate dehydrogenase deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090382025) - 77817004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090383024) - 77817004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090384029) - 77817004 -> 26996000 (116676008) View
116676008 \|Associated morphology (attribute)\|	26996000 \|Hyperkeratosis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090385028) - 77817004 -> 44138005 (363714003) View
363714003 \|Interprets (attribute)\|	44138005 \|Keratinization, function (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090386027) - 77817004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090387020) - 77817004 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090388026) - 77817004 -> 181469002 (363698007) View
363698007 \|Finding site (attribute)\|	181469002 \|Entire skin (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090389023) - 77817004 -> 65094009 (116680003) View
116680003 \|Is a (attribute)\|	65094009 \|Multiple malformation syndrome with facial defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090390025) - 77817004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090391026) - 77817004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5020347029) - 77817004 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10520792025) - 77817004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4663302026) - 77817004 -> 41086002 (116676008) View
116676008 \|Associated morphology (attribute)\|	41086002 \|Congenital smallness (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4663304025) - 77817004 -> 258335003 (363698007) View
363698007 \|Finding site (attribute)\|	258335003 \|Entire brain (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (868520020) - 77817004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2270037023) - 77817004 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4996686021) - 77817004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (868519025) - 77817004 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (868518022) - 77817004 -> 41086002 (116676008) View
116676008 \|Associated morphology (attribute)\|	41086002 \|Congenital smallness (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1148758003 View
1148758003	Congenital microcephaly (disorder)	Congenital microcephaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
402772005 View
402772005	Autosomal recessive ichthyosis (disorder)	Autosomal recessive ichthyosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
65094009 View
65094009	Multiple malformation syndrome with facial defects as major feature (disorder)	Multiple malformation syndrome with facial defects as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
303098002 View
303098002	3-phosphoglycerate dehydrogenase deficiency (disorder)	3-phosphoglycerate dehydrogenase deficiency	900000000000074008 \|Necessary but not sufficient concept 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 (9a66f75f-6f98-50f3-b0c6-fb9a2e963f35) 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 (d2d69fcd-4a8b-5226-a650-edf7a5f1d9c2) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q04.4	TRUE	ALWAYS Q04.4	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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