Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
4672728014 |
Intellectual disability, epilepsy, extrapyramidal syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
4672729018 |
Intellectual disability, epilepsy, extrapyramidal syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
4672730011 |
A rare genetic neurological disorder with characteristics of hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
Outbound Relationships |
Type |
Target |
Active |
Characteristic |
Refinability |
Group |
Values |
Intellectual disability, epilepsy, extrapyramidal syndrome |
est un(e) (attribut) |
Intellectual disability |
true |
Inferred relationship |
Some |
|
|
Intellectual disability, epilepsy, extrapyramidal syndrome |
est un(e) (attribut) |
trouble convulsif |
true |
Inferred relationship |
Some |
|
|
Intellectual disability, epilepsy, extrapyramidal syndrome |
est un(e) (attribut) |
Mental disorder in infancy |
true |
Inferred relationship |
Some |
|
|
Intellectual disability, epilepsy, extrapyramidal syndrome |
est un(e) (attribut) |
troubles du développement d'une fonction motrice |
true |
Inferred relationship |
Some |
|
|
Intellectual disability, epilepsy, extrapyramidal syndrome |
est un(e) (attribut) |
Developmental hereditary disorder |
true |
Inferred relationship |
Some |
|
|
Intellectual disability, epilepsy, extrapyramidal syndrome |
est un(e) (attribut) |
Hereditary disorder of musculoskeletal system |
true |
Inferred relationship |
Some |
|
|
Intellectual disability, epilepsy, extrapyramidal syndrome |
est un(e) (attribut) |
Hereditary disorder of nervous system |
true |
Inferred relationship |
Some |
|
|
Intellectual disability, epilepsy, extrapyramidal syndrome |
est un(e) (attribut) |
Poor muscle tone (finding) |
true |
Inferred relationship |
Some |
|
|
Intellectual disability, epilepsy, extrapyramidal syndrome |
est un(e) (attribut) |
affection d'un muscle squelettique |
true |
Inferred relationship |
Some |
|
|
Intellectual disability, epilepsy, extrapyramidal syndrome |
est un(e) (attribut) |
Autosomal recessive hereditary disorder |
true |
Inferred relationship |
Some |
|
|
Intellectual disability, epilepsy, extrapyramidal syndrome |
interprète (attribut) |
Muscle tone |
true |
Inferred relationship |
Some |
5 |
|
Intellectual disability, epilepsy, extrapyramidal syndrome |
interprète (attribut) |
capacité d'accomplir une fonction ou une activité |
true |
Inferred relationship |
Some |
4 |
|
Intellectual disability, epilepsy, extrapyramidal syndrome |
a pour interprétation (attribut) |
altéré |
true |
Inferred relationship |
Some |
4 |
|
Intellectual disability, epilepsy, extrapyramidal syndrome |
survenue (attribut) |
Infancy (qualifier value) |
true |
Inferred relationship |
Some |
1 |
|
Intellectual disability, epilepsy, extrapyramidal syndrome |
localisation d'une constatation (attribut) |
structure de muscle squelettique |
true |
Inferred relationship |
Some |
1 |
|
Intellectual disability, epilepsy, extrapyramidal syndrome |
survenue (attribut) |
Infancy (qualifier value) |
true |
Inferred relationship |
Some |
2 |
|
Intellectual disability, epilepsy, extrapyramidal syndrome |
localisation d'une constatation (attribut) |
Extrapyramidal system structure |
true |
Inferred relationship |
Some |
2 |
|
Intellectual disability, epilepsy, extrapyramidal syndrome |
survenue (attribut) |
Infancy (qualifier value) |
true |
Inferred relationship |
Some |
3 |
|
Intellectual disability, epilepsy, extrapyramidal syndrome |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
3 |
|