Loading...
dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 1340172003

Production
add
1340172003
The component that hold information about this concept.
Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder)
Clcn6-related childhood-onset progressive neurodegeneration, peripheral neuropathy 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

Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder)

SCTID: 1340172003, Primitive, Active


1340172003|Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder)|
  • en Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome
  • en Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder)
  • en Clcn6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome

1340172003 |Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder)|

<<< 106018006 |Hereditary degenerative disease of central nervous system (disorder)| +
    11164009 |Autosomal dominant hereditary disorder (disorder)| +
    128237006 |Chronic disease of musculoskeletal system (disorder)| +
    128283000 |Chronic nervous system disorder (disorder)| +
    224958001 |Global developmental delay (disorder)| +
    257277002 |Combined disorder of muscle and peripheral nerve (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    363212003 |Hereditary disorder of musculoskeletal system (disorder)| +
    398152000 |Poor muscle tone (finding)| :
        { 116676008 |Associated morphology (attribute)| = 107669003 |Degenerative abnormality (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 21483005 |Structure of central nervous system (body structure)|,
          246454002 |Occurrence (attribute)| = 255398004 |Childhood (qualifier value)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 3058005 |Peripheral nervous system structure (body structure)| }
        { 370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 371880002 |Abnormally low (qualifier value)|,
          363714003 |Interprets (attribute)| = 6918002 |Muscle tone (observable entity)| }
Active

5373316013 - Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (en) View

5373316013
en
Synonym (core metadata concept)
Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

5373315012 - Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder) (en) View

5373315012
en
Fully specified name (core metadata concept)
Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

5373317016 - CLCN6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (en) View

5373317016
en
Synonym (core metadata concept)
CLCN6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

Relationship (16405753021) - 1340172003 -> 371880002 (363713009) View

363713009 |Has interpretation (attribute)|
371880002 |Abnormally low (qualifier value)|
6
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16089447027) - 1340172003 -> 106018006 (116680003) View

116680003 |Is a (attribute)|
106018006 |Hereditary degenerative disease of central nervous system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16089448021) - 1340172003 -> 11164009 (116680003) View

116680003 |Is a (attribute)|
11164009 |Autosomal dominant hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16089449029) - 1340172003 -> 128237006 (116680003) View

116680003 |Is a (attribute)|
128237006 |Chronic disease of musculoskeletal system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16089450029) - 1340172003 -> 128283000 (116680003) View

116680003 |Is a (attribute)|
128283000 |Chronic nervous system disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16089451025) - 1340172003 -> 224958001 (116680003) View

116680003 |Is a (attribute)|
224958001 |Global developmental delay (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16089452021) - 1340172003 -> 257277002 (116680003) View

116680003 |Is a (attribute)|
257277002 |Combined disorder of muscle and peripheral nerve (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16089453027) - 1340172003 -> 363070008 (116680003) View

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

Relationship (16089454022) - 1340172003 -> 363212003 (116680003) View

116680003 |Is a (attribute)|
363212003 |Hereditary disorder of musculoskeletal system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16089455023) - 1340172003 -> 398152000 (116680003) View

116680003 |Is a (attribute)|
398152000 |Poor muscle tone (finding)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16089456024) - 1340172003 -> 255314001 (263502005) View

263502005 |Clinical course (attribute)|
255314001 |Progressive (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16089457026) - 1340172003 -> 6918002 (363714003) View

363714003 |Interprets (attribute)|
6918002 |Muscle tone (observable entity)|
6
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16089458020) - 1340172003 -> 127954009 (363698007) View

363698007 |Finding site (attribute)|
127954009 |Skeletal muscle structure (body structure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16089459028) - 1340172003 -> 3058005 (363698007) View

363698007 |Finding site (attribute)|
3058005 |Peripheral nervous system structure (body structure)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16089460022) - 1340172003 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16089461021) - 1340172003 -> 21483005 (363698007) View

363698007 |Finding site (attribute)|
21483005 |Structure of central nervous system (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16089462025) - 1340172003 -> 107669003 (116676008) View

116676008 |Associated morphology (attribute)|
107669003 |Degenerative abnormality (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16089463024) - 1340172003 -> 255398004 (246454002) View

246454002 |Occurrence (attribute)|
255398004 |Childhood (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

398152000 View

398152000
Poor muscle tone (finding)
Hypotonia
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

106018006 View

106018006
Hereditary degenerative disease of central nervous system (disorder)
Hereditary degenerative disease of central nervous system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

257277002 View

257277002
Combined disorder of muscle and peripheral nerve (disorder)
Myoneural disorder
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

11164009 View

11164009
Autosomal dominant hereditary disorder (disorder)
Ad - autosomal dominant
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

128237006 View

128237006
Chronic disease of musculoskeletal system (disorder)
Chronic musculoskeletal disease
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

128283000 View

128283000
Chronic nervous system disorder (disorder)
Chronic nervous system disease
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

224958001 View

224958001
Global developmental delay (disorder)
Global developmental delay
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

363212003 View

363212003
Hereditary disorder of musculoskeletal system (disorder)
Hereditary disorder of musculoskeletal system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True
esc