Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3498634010 |
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3498635011 |
Encephalopathy, intracerebral calcification, retinal degeneration syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3498636012 |
Bonnemann Meinecke Reich syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403695010 |
Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403696011 |
Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterised by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3498634010 |
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3498635011 |
Encephalopathy, intracerebral calcification, retinal degeneration syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3498636012 |
Bonnemann Meinecke Reich syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3499948016 |
A syndrome of multiple congenital anomalies with characteristics of encephalopathy that predominantly occurs in the first year of life and presents as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403695010 |
Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403696011 |
Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterised by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
537121000274118 |
Enzephalopathie mit intrazerebraler Kalzifikation und Retinadegeneration |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3445611001000115 |
Bonneman-Meinecke-Reich-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6105831000241116 |
syndrome de Bonnemann-Meinecke-Reich |
fr |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6105841000241114 |
syndrome d'encéphalopathie, calcification intracérébrale et dégénérescence rétinienne |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6105831000241116 |
syndrome de Bonnemann-Meinecke-Reich |
fr |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6105841000241114 |
syndrome d'encéphalopathie, calcification intracérébrale et dégénérescence rétinienne |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
537121000274118 |
Enzephalopathie mit intrazerebraler Kalzifikation und Retinadegeneration |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3445611001000115 |
Bonneman-Meinecke-Reich-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 |
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Is a |
Cerebral calcification |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Is a |
Multiple system malformation syndrome |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Is a |
Autosomal recessive hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Is a |
retard mental |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Is a |
Degeneration of retina (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Is a |
Hereditary disorder of nervous system (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Is a |
Hereditary disorder of the visual system (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Associated morphology |
dégénérescence |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Finding site |
Retinal structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Associated morphology |
anomalie du développement |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Associated morphology |
Pathologic calcification |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Encephalopathy, intracerebral calcification, retinal degeneration 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. |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Is a |
Intelligenzminderung |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Is a |
Anomalies of cerebrum |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Is a |
Congenital anomaly of retina |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Associated morphology |
dégénérescence |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Encephalopathy, intracerebral calcification, retinal degeneration 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 |
Existential restriction modifier (core metadata concept) |
1 |
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Associated morphology |
Pathologic calcification |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Finding site |
Retinal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Is a |
Congenital anomaly of cerebrum (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Is a |
Hereditary degenerative disease of central nervous system |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Is a |
Congenital degeneration of nervous system |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Associated morphology |
Degenerative abnormality (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Is a |
Developmental hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Interprets |
Intellectual ability (observable entity) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Has interpretation |
Impaired (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Interprets |
Adaptation behavior |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Has interpretation |
Impaired (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|