Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3324747010 |
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3324748017 |
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3326240013 |
4H syndrome |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
3326241012 |
A syndrome with the association of demyelinating leukodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3326242017 |
A syndrome with the association of demyelinating leucodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3324747010 |
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
en |
Fully specified name |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
3324747010 |
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3324748017 |
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
3324748017 |
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3326240013 |
4H syndrome |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
3326241012 |
A syndrome with the association of demyelinating leukodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3326242017 |
A syndrome with the association of demyelinating leucodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3385251001000118 |
Hypomyelinisierung-Hypogonadotroper Hypogonadismus-Hypodontie-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6246291000241116 |
syndrome 4H |
fr |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6246301000241117 |
syndrome d'hypomyélinisation, hypogonadisme hypogonadotrope et hypodontie |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6246291000241116 |
syndrome 4H |
fr |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6246301000241117 |
syndrome d'hypomyélinisation, hypogonadisme hypogonadotrope et hypodontie |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3385251001000118 |
Hypomyelinisierung-Hypogonadotroper Hypogonadismus-Hypodontie-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 |
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Is a |
Anodontia |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Is a |
Hypogonadotropic hypogonadism |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Is a |
Partial congenital absence of teeth (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Is a |
Autosomal recessive hereditary disorder |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Is a |
Leucodystrophy |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Is a |
Hereditary disorder of endocrine system (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Is a |
Reproductive system hereditary disorder (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
Structure of distal part of pituitary |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
Gonadal endocrine structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Associated morphology |
Congenital absence (morphologic abnormality) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
Entire tooth |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Associated morphology |
Congenital abnormal number |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Associated morphology |
Congenital abnormal number |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
Entire tooth |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Associated morphology |
Dystrophy |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Associated morphology |
Myelin sheath alteration |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
Nervous system structure (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Is a |
Congenital hypogonadotropic hypogonadism (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
Structure of distal part of pituitary |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
Structure of distal part of pituitary |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
Gonadal endocrine structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Is a |
Hereditary disorder of nervous system (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
White matter structure of brain and spinal cord (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Associated morphology |
Myelin sheath alteration |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
Myelinated nerve fiber structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
Entire tooth |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Associated morphology |
Congenital absence (morphologic abnormality) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
Gonadal endocrine structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Is a |
Hereditary degenerative disease of central nervous system |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Associated morphology |
Absence (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Is a |
absence de développement d'une dent |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
Tooth structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
Tooth structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Is a |
Congenital absence of jaw |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Is a |
Congenital absence of mouth (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Is a |
4H leucodystrophy |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Is a |
Chronic disease of teeth AND/OR supporting structures (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Is a |
Chronic disease of genitourinary system (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Is a |
Hereditary ataxia (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Is a |
Chronic brain syndrome (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Is a |
Cerebellar ataxia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Clinical course |
Progressive |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
Cerebellar structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
Gonadal endocrine structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
Structure of distal part of pituitary |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Associated morphology |
Abnormal number (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|