Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3646023013 |
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3646024019 |
Ataxia, delayed dentition, hypomyelination syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3646025018 |
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
6396921000241111 |
syndrome d'ataxie, retard de dentition et hypomyélinisation |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6396931000241113 |
syndrome de leucoencéphalopathie, ataxie, hypodontie et hypomyélinisation |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3420771001000113 |
Leukoenzephalopathie-Ataxie-Hypodontie-Hypomyelinisierung-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships |
Type |
Target |
Active |
Characteristic |
Refinability |
Group |
Values |
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Is a |
Congenital disease |
false |
Inferred relationship |
Some |
|
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Is a |
Autosomal recessive hereditary disorder |
false |
Inferred relationship |
Some |
|
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Is a |
Leucodystrophy |
false |
Inferred relationship |
Some |
|
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Is a |
Cerebral atrophy |
true |
Inferred relationship |
Some |
|
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Is a |
Hereditary ataxia (disorder) |
true |
Inferred relationship |
Some |
|
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Associated morphology |
Dystrophy |
true |
Inferred relationship |
Some |
3 |
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Associated morphology |
Myelin sheath alteration |
true |
Inferred relationship |
Some |
2 |
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Associated morphology |
Atrophy |
true |
Inferred relationship |
Some |
1 |
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Finding site |
The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. |
true |
Inferred relationship |
Some |
1 |
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Some |
1 |
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Is a |
Hereditary disorder of nervous system |
false |
Inferred relationship |
Some |
|
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Finding site |
White matter structure of brain and spinal cord (body structure) |
true |
Inferred relationship |
Some |
3 |
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Finding site |
Myelinated nerve fiber structure |
true |
Inferred relationship |
Some |
2 |
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Is a |
Hereditary degenerative disease of central nervous system |
false |
Inferred relationship |
Some |
|
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Is a |
A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms. |
true |
Inferred relationship |
Some |
|
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Is a |
Malformation of tooth (disorder) |
true |
Inferred relationship |
Some |
|
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Is a |
Late tooth eruption |
true |
Inferred relationship |
Some |
|
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Finding site |
Gonadal endocrine structure |
true |
Inferred relationship |
Some |
5 |
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Finding site |
Structure of distal part of pituitary |
true |
Inferred relationship |
Some |
6 |
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Finding site |
Tooth structure |
true |
Inferred relationship |
Some |
4 |
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Associated morphology |
Maturation deceleration |
true |
Inferred relationship |
Some |
4 |
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
4 |
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Interprets |
Eruption of tooth |
true |
Inferred relationship |
Some |
7 |
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Has interpretation |
Abnormal |
true |
Inferred relationship |
Some |
7 |
|