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Terminology chevron_right Concepts chevron_right 773583007

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773583007
The component that hold information about this concept.
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
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

Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)

SCTID: 773583007, Primitive, Active


773583007|Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)|
  • en Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
  • en Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
  • en Aphonia, deafness, retinal dystrophy, duplicated halluces, intellectual disability syndrome
  • en Aphonia, hearing loss, retinal dystrophy, duplicated halluces, intellectual disability syndrome

773583007 |Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)|

<<< 85995004 |Autosomal recessive hereditary disorder (disorder)| +
    95827002 |Congenital hearing disorder (disorder)| +
    441913003 |Aphonia (disorder)| +
    41799005 |Hereditary retinal dystrophy (disorder)| +
    205351000 |Perodactylia of great toe (disorder)| +
    41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    1362108000 |Genetic intellectual disability (disorder)| +
    788953003 |Hereditary hearing loss (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 41194006 |Bilobed structure (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 78883009 |Great toe structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 91159003 |Structure of auditory system (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 5665001 |Retinal structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
          363714003 |Interprets (attribute)| = 288547000 |Ability to perform functions related to communication (observable entity)| }
        { 363714003 |Interprets (attribute)| = 47078008 |Hearing, 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)| }
Active

3724291019 - Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (en) View

3724291019
en
Synonym (core metadata concept)
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3724290018 - Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) (en) View

3724290018
en
Fully specified name (core metadata concept)
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3724289010 - Aphonia, deafness, retinal dystrophy, duplicated halluces, intellectual disability syndrome (en) View

3724289010
en
Synonym (core metadata concept)
Aphonia, deafness, retinal dystrophy, duplicated halluces, intellectual disability syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3724288019 - Aphonia, hearing loss, retinal dystrophy, duplicated halluces, intellectual disability syndrome (en) View

3724288019
en
Synonym (core metadata concept)
Aphonia, hearing loss, retinal dystrophy, duplicated halluces, intellectual disability syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

Relationship (10607691021) - 773583007 -> 15188001 (116680003) View

116680003 |Is a (attribute)|
15188001 |Hearing loss (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (10607701023) - 773583007 -> 362991006 (116680003) View

116680003 |Is a (attribute)|
362991006 |Auditory system hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (16374389026) - 773583007 -> 788953003 (116680003) View

116680003 |Is a (attribute)|
788953003 |Hereditary hearing loss (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10607699023) - 773583007 -> 110359009 (116680003) View

116680003 |Is a (attribute)|
110359009 |Intellectual disability|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (16316657025) - 773583007 -> 1362108000 (116680003) View

116680003 |Is a (attribute)|
1362108000 |Genetic intellectual disability (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15094810026) - 773583007 -> 247573007 (363714003) View

363714003 |Interprets (attribute)|
247573007 |Intellectual ability (observable entity)|
6
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15094811027) - 773583007 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
6
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15096175029) - 773583007 -> 406208005 (363714003) View

363714003 |Interprets (attribute)|
406208005 |Adaptation behavior (observable entity)|
7
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15096176028) - 773583007 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
7
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11290009025) - 773583007 -> 284530008 (116680003) View

116680003 |Is a (attribute)|
284530008 |Communication, speech and language finding (finding)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (13069992028) - 773583007 -> 363070008 (116680003) View

116680003 |Is a (attribute)|
363070008 |Developmental hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10607704026) - 773583007 -> 47078008 (363714003) View

363714003 |Interprets (attribute)|
47078008 |Hearing, function (observable entity)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11290008022) - 773583007 -> 263654008 (363713009) View

363713009 |Has interpretation (attribute)|
263654008 |Abnormal (qualifier value)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11290010024) - 773583007 -> 288547000 (363714003) View

363714003 |Interprets (attribute)|
288547000 |Ability to perform functions related to communication (observable entity)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10607687027) - 773583007 -> 85995004 (116680003) View

116680003 |Is a (attribute)|
85995004 |Autosomal recessive hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10607688021) - 773583007 -> 95827002 (116680003) View

116680003 |Is a (attribute)|
95827002 |Congenital hearing disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10607689029) - 773583007 -> 78883009 (363698007) View

363698007 |Finding site (attribute)|
78883009 |Great toe structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10607690022) - 773583007 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10607692025) - 773583007 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10607693024) - 773583007 -> 41194006 (116676008) View

116676008 |Associated morphology (attribute)|
41194006 |Bilobed structure (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10607694029) - 773583007 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10607695028) - 773583007 -> 441913003 (116680003) View

116680003 |Is a (attribute)|
441913003 |Aphonia (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10607696027) - 773583007 -> 91159003 (363698007) View

363698007 |Finding site (attribute)|
91159003 |Structure of auditory system (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10607697020) - 773583007 -> 41799005 (116680003) View

116680003 |Is a (attribute)|
41799005 |Hereditary retinal dystrophy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10607698026) - 773583007 -> 5665001 (363698007) View

363698007 |Finding site (attribute)|
5665001 |Retinal structure (body structure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10607700024) - 773583007 -> 4720007 (116676008) View

116676008 |Associated morphology (attribute)|
4720007 |Dystrophy (morphologic abnormality)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10607702027) - 773583007 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10607703021) - 773583007 -> 205351000 (116680003) View

116680003 |Is a (attribute)|
205351000 |Perodactylia of great toe (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10607705025) - 773583007 -> 41443008 (116680003) View

116680003 |Is a (attribute)|
41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

788953003 View

788953003
Hereditary hearing loss (disorder)
Hereditary hearing loss
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

1362108000 View

1362108000
Genetic intellectual disability (disorder)
Genetic intellectual disability
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

95827002 View

95827002
Congenital hearing disorder (disorder)
Congenital hearing disorder
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

441913003 View

441913003
Aphonia (disorder)
Aphonia
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

205351000 View

205351000
Perodactylia of great toe (disorder)
Perodactylia of great toe
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

41443008 View

41443008
Multiple malformation syndrome with limb defect as major feature (disorder)
Multiple malformation syndrome with limb defect as major feature
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

41799005 View

41799005
Hereditary retinal dystrophy (disorder)
Hereditary retinal dystrophy
900000000000074008 |Necessary but not sufficient concept 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

ExtendedMap object (df15954c-ffd4-52ad-a1e1-c007214c1089) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q87.0
TRUE
ALWAYS Q87.0 | 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)|
esc