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Terminology chevron_right Concepts chevron_right 724091002

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Component

724091002

The component that hold information about this concept.

Fully Specified Name (FSN)

Neuroectodermal melanolysosomal disease (disorder)

Shortest Term

Elejalde disease

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

Neuroectodermal melanolysosomal disease (disorder)

SCTID: 724091002, Primitive, Active

724091002|Neuroectodermal melanolysosomal disease (disorder)|

en Elejalde disease
en Neuroectodermal melanolysosomal disease
en Neuroectodermal melanolysosomal disease (disorder)

Expression

724091002 |Neuroectodermal melanolysosomal disease (disorder)|
 <<< 49765009 |Hyperpigmentation of skin (disorder)| + 
78572006 |Neurocutaneous syndrome (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
205564003 |Congenital pigmentary skin anomalies (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
724839001 |Genetic disorder of skin pigmentation (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
88425004 |Congenital anomaly of nervous system (disorder)| + 
363185004 |Hereditary disorder of the integument (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 4830009 |Hyperpigmentation (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 39937001 |Skin 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)| = 25087005 |Structure of nervous system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 108369006 |Neoplasm (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 108369006 |Neoplasm (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 39937001 |Skin structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3430549013 - Elejalde disease (en) View
3430549013	en	Synonym (core metadata concept)	Elejalde disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3430548017 - Neuroectodermal melanolysosomal disease (en) View
3430548017	en	Synonym (core metadata concept)	Neuroectodermal melanolysosomal disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3430547010 - Neuroectodermal melanolysosomal disease (disorder) (en) View
3430547010	en	Fully specified name (core metadata concept)	Neuroectodermal melanolysosomal disease (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15392707028) - 724091002 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874204021) - 724091002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13647846024) - 724091002 -> 88425004 (116680003) View
116680003 \|Is a (attribute)\|	88425004 \|Congenital anomaly of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13647847026) - 724091002 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13647848020) - 724091002 -> 108369006 (116676008) View
116676008 \|Associated morphology (attribute)\|	108369006 \|Neoplasm (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13647849028) - 724091002 -> 108369006 (116676008) View
116676008 \|Associated morphology (attribute)\|	108369006 \|Neoplasm (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13647850028) - 724091002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13647851029) - 724091002 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069461024) - 724091002 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6876088028) - 724091002 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6876090027) - 724091002 -> 56588001 (116676008) View
116676008 \|Associated morphology (attribute)\|	56588001 \|Congenital hyperpigmentation (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6876091028) - 724091002 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10525744027) - 724091002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10525745026) - 724091002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10525748029) - 724091002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539030028) - 724091002 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539031029) - 724091002 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11105943023) - 724091002 -> 4830009 (116676008) View
116676008 \|Associated morphology (attribute)\|	4830009 \|Hyperpigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874193025) - 724091002 -> 49765009 (116680003) View
116680003 \|Is a (attribute)\|	49765009 \|Hyperpigmentation of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874194020) - 724091002 -> 78572006 (116680003) View
116680003 \|Is a (attribute)\|	78572006 \|Neurocutaneous syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874195021) - 724091002 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874196022) - 724091002 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874197029) - 724091002 -> 205564003 (116680003) View
116680003 \|Is a (attribute)\|	205564003 \|Congenital pigmentary skin anomalies (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874199026) - 724091002 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874201029) - 724091002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6876089020) - 724091002 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6920336023) - 724091002 -> 724839001 (116680003) View
116680003 \|Is a (attribute)\|	724839001 \|Genetic disorder of skin pigmentation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
49765009 View
49765009	Hyperpigmentation of skin (disorder)	Tăng sắc tố da	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
724839001 View
724839001	Genetic disorder of skin pigmentation (disorder)	Genetic disorder of skin pigmentation	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
205564003 View
205564003	Congenital pigmentary skin anomalies (disorder)	Dị tật sắc tố da bẩm sinh	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
88425004 View
88425004	Congenital anomaly of nervous system (disorder)	Dị tật bẩm sinh của hệ thần kinh	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
78572006 View
78572006	Neurocutaneous syndrome (disorder)	Phacomatosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363185004 View
363185004	Hereditary disorder of the integument (disorder)	Hereditary disorder of the integument	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of nervous system	900000000000073002 \|Sufficiently defined by necessary conditions 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 (9b91891f-8fa4-5e59-9ba4-7d8469d32805) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	L81.4	TRUE	ALWAYS L81.4 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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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