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Terminology chevron_right Concepts chevron_right 38196001

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Component

38196001

The component that hold information about this concept.

Fully Specified Name (FSN)

Laron-type isolated somatotropin defect (disorder)

Shortest Term

Laron 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

Laron-type isolated somatotropin defect (disorder)

SCTID: 38196001, Primitive, Active

38196001|Laron-type isolated somatotropin defect (disorder)|

en Laron syndrome
en Laron-type isolated somatotropin defect (disorder)
en Laron dwarfism
en Laron-type dwarfism
en Laron-type isolated somatotropin defect
en Laron-type pituitary dwarfism

Expression

38196001 |Laron-type isolated somatotropin defect (disorder)|
 <<< 237836003 |Short stature disorder (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 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
4535149016 - Laron syndrome (en) View
4535149016	en	Synonym (core metadata concept)	Laron syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
771912011 - Laron-type isolated somatotropin defect (disorder) (en) View
771912011	en	Fully specified name (core metadata concept)	Laron-type isolated somatotropin defect (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
63919016 - Laron dwarfism (en) View
63919016	en	Synonym (core metadata concept)	Laron dwarfism	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
63918012 - Laron-type dwarfism (en) View
63918012	en	Synonym (core metadata concept)	Laron-type dwarfism	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
63917019 - Laron-type isolated somatotropin defect (en) View
63917019	en	Synonym (core metadata concept)	Laron-type isolated somatotropin defect	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
63920010 - Laron-type pituitary dwarfism (en) View
63920010	en	Synonym (core metadata concept)	Laron-type pituitary dwarfism	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13068948022) - 38196001 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13280408025) - 38196001 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11573523023) - 38196001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (210064025) - 38196001 -> 237836003 (116680003) View
116680003 \|Is a (attribute)\|	237836003 \|Short stature disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2841867020) - 38196001 -> 185797004 (116680003) View
116680003 \|Is a (attribute)\|	185797004 \|Dwarfism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (210063020) - 38196001 -> 367460001 (116680003) View
116680003 \|Is a (attribute)\|	367460001 \|Pituitary dwarfism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (767335024) - 38196001 -> 43451003 (116676008) View
116676008 \|Associated morphology (attribute)\|	43451003 \|Congenital deficiency (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2266556025) - 38196001 -> 62818001 (363698007) View
363698007 \|Finding site (attribute)\|	62818001 \|Adenohypophysis structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2595129026) - 38196001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2841866027) - 38196001 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (767332022) - 38196001 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (767334023) - 38196001 -> 245533002 (363698007) View
363698007 \|Finding site (attribute)\|	245533002 \|Pars anterior of pituitary gland (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (767333028) - 38196001 -> 47563007 (363714003) View
363714003 \|Interprets (attribute)\|	47563007 \|Nutritional deficiency (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (767336020) - 38196001 -> 127944005 (363698007) View
363698007 \|Finding site (attribute)\|	127944005 \|Entire endocrine gonad (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	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

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
237838002 View
237838002	Growth hormone receptor absent (disorder)	Growth hormone receptor absent	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237839005 View
237839005	Growth hormone receptor abnormality (disorder)	Growth hormone receptor abnormality	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 (583204b2-22b9-5265-bd60-5a5db535666c) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E34.3	TRUE	ALWAYS E34.3	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)\|

Terminology chevron_right Concepts chevron_right 38196001

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