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Terminology chevron_right Concepts chevron_right 773553003

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Component

773553003

The component that hold information about this concept.

Fully Specified Name (FSN)

Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)

Shortest Term

Shaheen 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

Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)

SCTID: 773553003, Primitive, Active

773553003|Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)|

en Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
en Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)
en Shaheen syndrome

Expression

773553003 |Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)|
 <<< 85995004 |Autosomal recessive hereditary disorder (disorder)| + 
45004005 |Hypohidrosis (disorder)| + 
400123002 |Hereditary diffuse palmoplantar keratoderma (disorder)| + 
26597004 |Enamel hypoplasia (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1148766007 |Hereditary disorder of tooth (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 26996000 |Hyperkeratosis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 181544004 |Entire skin of palmar area of hand (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 55199003 |Hypoplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 76993005 |Enamel structure (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 26996000 |Hyperkeratosis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 181566006 |Entire skin of sole of foot (body structure)| }
        { 363698007 |Finding site (attribute)| = 10410005 |Sweat gland structure (body structure)| }
        { 370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 1250004 |Decreased (qualifier value)|,
363714003 |Interprets (attribute)| = 415691001 |Sweating, function (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 247573007 |Intellectual ability (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 406208005 |Adaptation behavior (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3724062010 - Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (en) View
3724062010	en	Synonym (core metadata concept)	Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3724061015 - Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) (en) View
3724061015	en	Fully specified name (core metadata concept)	Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3724060019 - Shaheen syndrome (en) View
3724060019	en	Synonym (core metadata concept)	Shaheen syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (10604150028) - 773553003 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316653026) - 773553003 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094800024) - 773553003 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094801023) - 773553003 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096165027) - 773553003 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096166026) - 773553003 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604142021) - 773553003 -> 363080007 (116680003) View
116680003 \|Is a (attribute)\|	363080007 \|Digestive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13648099028) - 773553003 -> 415691001 (363714003) View
363714003 \|Interprets (attribute)\|	415691001 \|Sweating, function (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13648100020) - 773553003 -> 1250004 (363713009) View
363713009 \|Has interpretation (attribute)\|	1250004 \|Decreased (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13717787024) - 773553003 -> 1148766007 (116680003) View
116680003 \|Is a (attribute)\|	1148766007 \|Hereditary disorder of tooth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12095733025) - 773553003 -> 26996000 (116676008) View
116676008 \|Associated morphology (attribute)\|	26996000 \|Hyperkeratosis (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12095734020) - 773553003 -> 70887009 (363698007) View
363698007 \|Finding site (attribute)\|	70887009 \|Skin structure of palmar area of hand (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12095736022) - 773553003 -> 37136002 (363698007) View
363698007 \|Finding site (attribute)\|	37136002 \|Skin structure of sole of foot (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12854580027) - 773553003 -> 181544004 (363698007) View
363698007 \|Finding site (attribute)\|	181544004 \|Entire skin of palmar area of hand (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12854581028) - 773553003 -> 26996000 (116676008) View
116676008 \|Associated morphology (attribute)\|	26996000 \|Hyperkeratosis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12854582024) - 773553003 -> 181566006 (363698007) View
363698007 \|Finding site (attribute)\|	181566006 \|Entire skin of sole of foot (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069987025) - 773553003 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604141025) - 773553003 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10604148020) - 773553003 -> 44138005 (363714003) View
363714003 \|Interprets (attribute)\|	44138005 \|Keratinization, function (observable entity)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12095735021) - 773553003 -> 254214009 (116680003) View
116680003 \|Is a (attribute)\|	254214009 \|Inherited disorder of keratinization (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12095737029) - 773553003 -> 254666005 (116680003) View
116680003 \|Is a (attribute)\|	254666005 \|Keratosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12142429029) - 773553003 -> 816995008 (116680003) View
116680003 \|Is a (attribute)\|	816995008 \|Rough skin (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10604145023) - 773553003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10604144022) - 773553003 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10604149028) - 773553003 -> 10410005 (363698007) View
363698007 \|Finding site (attribute)\|	10410005 \|Sweat gland structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11571258027) - 773553003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604143027) - 773553003 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604146024) - 773553003 -> 45004005 (116680003) View
116680003 \|Is a (attribute)\|	45004005 \|Hypohidrosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604147026) - 773553003 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604151029) - 773553003 -> 400123002 (116680003) View
116680003 \|Is a (attribute)\|	400123002 \|Hereditary diffuse palmoplantar keratoderma (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604152020) - 773553003 -> 26996000 (116676008) View
116676008 \|Associated morphology (attribute)\|	26996000 \|Hyperkeratosis (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604153026) - 773553003 -> 26597004 (116680003) View
116680003 \|Is a (attribute)\|	26597004 \|Enamel hypoplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604154021) - 773553003 -> 76993005 (363698007) View
363698007 \|Finding site (attribute)\|	76993005 \|Enamel structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1362108000 View
1362108000	Genetic intellectual disability (disorder)	Genetic intellectual disability	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
45004005 View
45004005	Hypohidrosis (disorder)	Hypohidrosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1148766007 View
1148766007	Hereditary disorder of tooth (disorder)	Hereditary disorder of tooth	900000000000073002 \|Sufficiently defined by necessary conditions 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
400123002 View
400123002	Hereditary diffuse palmoplantar keratoderma (disorder)	Diffuse palmoplantar keratoderma	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
26597004 View
26597004	Enamel hypoplasia (disorder)	Enamel hypoplasia	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

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 (1db23b07-556f-5899-8e1b-7cba06050672) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q82.8	TRUE	ALWAYS Q82.8 \| 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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