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Terminology chevron_right Concepts chevron_right 234533006

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Component

234533006

The component that hold information about this concept.

Fully Specified Name (FSN)

X-linked agammaglobulinemia with growth hormone deficiency (disorder)

Shortest Term

Fleisher 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

X-linked agammaglobulinemia with growth hormone deficiency (disorder)

SCTID: 234533006, Primitive, Active

234533006|X-linked agammaglobulinemia with growth hormone deficiency (disorder)|

en Short stature due to isolated growth hormone deficiency with x-linked hypogammaglobulinaemia
en Short stature due to isolated growth hormone deficiency with x-linked hypogammaglobulinemia
en X-linked agammaglobulinemia with growth hormone deficiency
en X-linked agammaglobulinemia with growth hormone deficiency (disorder)
en Fleisher syndrome
en X-linked agammaglobulinaemia with growth hormone deficiency

Expression

234533006 |X-linked agammaglobulinemia with growth hormone deficiency (disorder)|
 <<< 414030009 |Disorder of immune structure (disorder)| + 
363138005 |Hereditary disorder of immune system (disorder)| + 
116133005 |Congenital agammaglobulinemia (disorder)| + 
1162976004 |X-linked recessive hereditary disease (disorder)| + 
237836003 |Short stature disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 363698007 |Finding site (attribute)| = 116003000 |Structure of immune system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        { 370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4636331019 - Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinaemia (en) View
4636331019	en	Synonym (core metadata concept)	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinaemia	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
4636332014 - Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia (en) View
4636332014	en	Synonym (core metadata concept)	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
351396014 - X-linked agammaglobulinemia with growth hormone deficiency (en) View
351396014	en	Synonym (core metadata concept)	X-linked agammaglobulinemia with growth hormone deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
622867012 - X-linked agammaglobulinemia with growth hormone deficiency (disorder) (en) View
622867012	en	Fully specified name (core metadata concept)	X-linked agammaglobulinemia with growth hormone deficiency (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
351397017 - Fleisher syndrome (en) View
351397017	en	Synonym (core metadata concept)	Fleisher syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
351398010 - X-linked agammaglobulinaemia with growth hormone deficiency (en) View
351398010	en	Synonym (core metadata concept)	X-linked agammaglobulinaemia with growth hormone deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9198974020) - 234533006 -> 128430005 (116680003) View
116680003 \|Is a (attribute)\|	128430005 \|X-linked hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11171207021) - 234533006 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14020634029) - 234533006 -> 1162976004 (116680003) View
116680003 \|Is a (attribute)\|	1162976004 \|X-linked recessive hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14020635028) - 234533006 -> 237836003 (116680003) View
116680003 \|Is a (attribute)\|	237836003 \|Short stature disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14020636027) - 234533006 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14020637020) - 234533006 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14020638026) - 234533006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14020639023) - 234533006 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (48266028) - 234533006 -> 65880007 (116680003) View
116680003 \|Is a (attribute)\|	65880007 \|X-linked agammaglobulinemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (514294027) - 234533006 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (514295026) - 234533006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2712179027) - 234533006 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9198973025) - 234533006 -> 116133005 (116680003) View
116680003 \|Is a (attribute)\|	116133005 \|Congenital agammaglobulinemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9198975021) - 234533006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9198976022) - 234533006 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2708186023) - 234533006 -> 414030009 (116680003) View
116680003 \|Is a (attribute)\|	414030009 \|Disorder of immune structure (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2708190020) - 234533006 -> 363138005 (116680003) View
116680003 \|Is a (attribute)\|	363138005 \|Hereditary disorder of immune system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1162976004 View
1162976004	X-linked recessive hereditary disease (disorder)	X-linked recessive hereditary disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
414030009 View
414030009	Disorder of immune structure (disorder)	Disorder of immune structure	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
116133005 View
116133005	Congenital agammaglobulinemia (disorder)	Congenital agammaglobulinemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237836003 View
237836003	Short stature disorder (disorder)	Dwarf	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363138005 View
363138005	Hereditary disorder of immune system (disorder)	Hereditary disorder of immune 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 (0be8b9e7-2924-5671-8535-cace78e6db2e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D80.0	TRUE	ALWAYS D80.0	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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