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Terminology chevron_right Concepts chevron_right 89655007

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Component

89655007

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital neutropenia (disorder)

Shortest Term

Kostmann's syndrome

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Congenital neutropenia (disorder)

SCTID: 89655007, Defined, Active

89655007|Congenital neutropenia (disorder)|

en Congenital neutropenia
en Congenital neutropenia (disorder)
en Primary neutropenia
en Severe congenital neutropenia
en Severe infantile genetic neutropenia

Expression

89655007 |Congenital neutropenia (disorder)|
 === 303011007 |Neutropenic disorder (disorder)| + 
36138009 |Congenital immunodeficiency disease (disorder)| : 
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 30630007 |Neutrophil count (procedure)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
508615011 - Infantile genetic agranulocytosis (en) View
508615011	en	Synonym (core metadata concept)	Infantile genetic agranulocytosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	False
148642019 - Severe infantile genetic agranulocytosis (en) View
148642019	en	Synonym (core metadata concept)	Severe infantile genetic agranulocytosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	False
148640010 - Kostmann's syndrome (en) View
148640010	en	Synonym (core metadata concept)	Kostmann's syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
148639013 - Congenital neutropenia (en) View
148639013	en	Synonym (core metadata concept)	Congenital neutropenia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
832594014 - Congenital neutropenia (disorder) (en) View
832594014	en	Fully specified name (core metadata concept)	Congenital neutropenia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
508614010 - Primary neutropenia (en) View
508614010	en	Synonym (core metadata concept)	Primary neutropenia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
508616012 - Severe congenital neutropenia (en) View
508616012	en	Synonym (core metadata concept)	Severe congenital neutropenia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
148641014 - Severe infantile genetic neutropenia (en) View
148641014	en	Synonym (core metadata concept)	Severe infantile genetic neutropenia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (899410026) - 89655007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11170764024) - 89655007 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4799131021) - 89655007 -> 699346009 (116680003) View
116680003 \|Is a (attribute)\|	699346009 \|Hereditary cancer-predisposing syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5046306028) - 89655007 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2789282023) - 89655007 -> 165517008 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	165517008 \|Neutropenia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7545008025) - 89655007 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7545009022) - 89655007 -> 30630007 (363714003) View
363714003 \|Interprets (attribute)\|	30630007 \|Neutrophil count (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2739051026) - 89655007 -> 250271003 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	250271003 \|White blood cell finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (899407022) - 89655007 -> 24484000 (246112005) View
246112005 \|Severity (attribute)\|	24484000 \|Severe (severity modifier) (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2739050025) - 89655007 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (294710021) - 89655007 -> 234574006 (116680003) View
116680003 \|Is a (attribute)\|	234574006 \|Disorder of phagocytic cell number (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (899409020) - 89655007 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2490664026) - 89655007 -> 24827003 (116676008) View
116676008 \|Associated morphology (attribute)\|	24827003 \|White blood cell abnormality (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (294709027) - 89655007 -> 40888008 (116680003) View
116680003 \|Is a (attribute)\|	40888008 \|Congenital anomaly of the hematopoietic system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (294711020) - 89655007 -> 105602005 (116680003) View
116680003 \|Is a (attribute)\|	105602005 \|Quantitative abnormality of granulocytes (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2271084029) - 89655007 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (899408028) - 89655007 -> 52501007 (363698007) View
363698007 \|Finding site (attribute)\|	52501007 \|Leukocyte (cell)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (899411027) - 89655007 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (294707025) - 89655007 -> 303011007 (116680003) View
116680003 \|Is a (attribute)\|	303011007 \|Neutropenic disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (294708024) - 89655007 -> 36138009 (116680003) View
116680003 \|Is a (attribute)\|	36138009 \|Congenital immunodeficiency disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
303011007 View
303011007	Neutropenic disorder (disorder)	Neutropenia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
36138009 View
36138009	Congenital immunodeficiency disease (disorder)	Congenital immunodeficiency disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1371048007 View
1371048007	Congenital neutropenia, combined immunodeficiency due to mkl1 deficiency (disorder)	Mkl1-related neutrophil motility defect	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1003381002 View
1003381002	Onycho-tricho-dysplasia neutropenia syndrome (disorder)	Trichothiodystrophy type g	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
782759001 View
782759001	X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)	X-linked dyserythropoietic anemia with abnormal platelets and neutropenia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783058007 View
783058007	Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder)	Severe congenital neutropenia type 4	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783199003 View
783199003	Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency (disorder)	Autosomal recessive severe congenital neutropenia due to jagn1 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783200000 View
783200000	Autosomal recessive severe congenital neutropenia due to c-x-c motif chemokine receptor 2 deficiency (disorder)	Autosomal recessive severe congenital neutropenia due to cxcr2 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783201001 View
783201001	Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency (disorder)	Autosomal recessive severe congenital neutropenia due to csf3r deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770942003 View
770942003	Kostmann syndrome (disorder)	Kostmann syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770947009 View
770947009	Autosomal dominant severe congenital neutropenia (disorder)	Autosomal dominant severe congenital neutropenia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
775909002 View
775909002	Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder)	Vps45 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
725137007 View
725137007	Neutropenia, monocytopenia, deafness syndrome (disorder)	Neutropenia, monocytopenia, deafness syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
718882006 View
718882006	X-linked severe congenital neutropenia (disorder)	X-linked severe congenital neutropenia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
89454001 View
89454001	Shwachman syndrome (disorder)	Shwachman syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
111584000 View
111584000	Reticular dysgenesis (disorder)	De vaal disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
190996002 View
190996002	Severe combined immunodeficiency with reticular dysgenesis (disorder)	Severe combined immunodefiency with reticular dysgenesis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234571003 View
234571003	Warts, hypogammaglobulinemia, infections, and myelokathexis (disorder)	Warts, hypogammaglobulinemia, infections, and myelokathexis	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 (2fc57796-118b-559f-bf12-5a0cb99be875) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D70	TRUE	ALWAYS D70	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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