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Terminology chevron_right Concepts chevron_right 9311003

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Component

9311003

The component that hold information about this concept.

Fully Specified Name (FSN)

Hermansky-pudlak syndrome (disorder)

Shortest Term

Hermansky pudlak 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

Hermansky-pudlak syndrome (disorder)

SCTID: 9311003, Primitive, Active

9311003|Hermansky-pudlak syndrome (disorder)|

en Albinism with haemorrhagic diathesis
en Albinism with hemorrhagic diathesis
en Alpha storage pool disease
en Hermansky pudlak syndrome
en Hermansky-pudlak syndrome (disorder)
en Hermansky-pudlak syndrome

Expression

9311003 |Hermansky-pudlak syndrome (disorder)|
 <<< 26336006 |Tyrosinase-positive oculocutaneous albinism (disorder)| + 
234474009 |Dense body defect (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 37257004 |Decreased melanin pigmentation (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)| = 37257004 |Decreased melanin pigmentation (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 81745001 |Structure of eye proper (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)| = 74848003 |Hemostatic function (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
510207013 - Albinism with haemorrhagic diathesis (en) View
510207013	en	Synonym (core metadata concept)	Albinism with haemorrhagic diathesis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
16344014 - Albinism with hemorrhagic diathesis (en) View
16344014	en	Synonym (core metadata concept)	Albinism with hemorrhagic diathesis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
16345010 - Alpha storage pool disease (en) View
16345010	en	Synonym (core metadata concept)	Alpha storage pool disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3037196011 - Hermansky Pudlak syndrome (en) View
3037196011	en	Synonym (core metadata concept)	Hermansky Pudlak syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
836776015 - Hermansky-Pudlak syndrome (disorder) (en) View
836776015	en	Fully specified name (core metadata concept)	Hermansky-Pudlak syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
16343015 - Hermansky-Pudlak syndrome (en) View
16343015	en	Synonym (core metadata concept)	Hermansky-Pudlak syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (11292367027) - 9311003 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12436787026) - 9311003 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2739544026) - 9311003 -> 37200009 (42752001) View
42752001 \|Due to (attribute)\|	37200009 \|Disorder of tyrosine metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3306848028) - 9311003 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5023256020) - 9311003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023257027) - 9311003 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5030534027) - 9311003 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11183732020) - 9311003 -> 89031001 (116676008) View
116676008 \|Associated morphology (attribute)\|	89031001 \|Hypopigmentation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11183733026) - 9311003 -> 89031001 (116676008) View
116676008 \|Associated morphology (attribute)\|	89031001 \|Hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11292366020) - 9311003 -> 74848003 (363714003) View
363714003 \|Interprets (attribute)\|	74848003 \|Hemostatic function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3306846029) - 9311003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3306847022) - 9311003 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3456761029) - 9311003 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023254023) - 9311003 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023255024) - 9311003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10525330024) - 9311003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10525331023) - 9311003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10546205020) - 9311003 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9238498022) - 9311003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1686233021) - 9311003 -> 281867008 (116680003) View
116680003 \|Is a (attribute)\|	281867008 \|Multisystem disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (914196024) - 9311003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4971896022) - 9311003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3494379023) - 9311003 -> 414393003 (116680003) View
116680003 \|Is a (attribute)\|	414393003 \|Hereditary disorder of cellular element of blood (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (914195023) - 9311003 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2523672028) - 9311003 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2739543021) - 9311003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2739545025) - 9311003 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (914198020) - 9311003 -> 16378004 (363698007) View
363698007 \|Finding site (attribute)\|	16378004 \|Platelet (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2739542027) - 9311003 -> 250311007 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	250311007 \|Platelet finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2789380029) - 9311003 -> 128153000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	128153000 \|Hemostatic system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (301561029) - 9311003 -> 40888008 (116680003) View
116680003 \|Is a (attribute)\|	40888008 \|Congenital anomaly of the hematopoietic system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (568134026) - 9311003 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (914194022) - 9311003 -> 20795001 (363698007) View
363698007 \|Finding site (attribute)\|	20795001 \|Structure of skin region (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2271718026) - 9311003 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (914197026) - 9311003 -> 43451003 (116676008) View
116676008 \|Associated morphology (attribute)\|	43451003 \|Congenital deficiency (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (568135025) - 9311003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (301562020) - 9311003 -> 312568001 (116680003) View
116680003 \|Is a (attribute)\|	312568001 \|Multisystem disorder g-h (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (914190029) - 9311003 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (301563026) - 9311003 -> 234474009 (116680003) View
116680003 \|Is a (attribute)\|	234474009 \|Dense body defect (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (301564021) - 9311003 -> 26336006 (116680003) View
116680003 \|Is a (attribute)\|	26336006 \|Tyrosinase-positive oculocutaneous albinism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
26336006 View
26336006	Tyrosinase-positive oculocutaneous albinism (disorder)	Albinoidism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234474009 View
234474009	Dense body defect (disorder)	Dense body defect	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 (33bbab82-0b2a-59cb-b7cf-b80ae1047765) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E70.3	TRUE	ALWAYS E70.3	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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