Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3723057016 |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3723058014 |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3723059018 |
A rare genetic central nervous system malformation syndrome with characteristics of marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3723057016 |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3723058014 |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3723059018 |
A rare genetic central nervous system malformation syndrome with characteristics of marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3427391001000111 |
Microzephalie - Polymikrogyrie - Corpus callosum-Agenesie |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
907611000172111 |
syndrome de microcéphalie-polymicrogyrie-agénésie du corps calleux |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
907611000172111 |
syndrome de microcéphalie-polymicrogyrie-agénésie du corps calleux |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3427391001000111 |
Microzephalie - Polymikrogyrie - Corpus callosum-Agenesie |
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 |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
Associated morphology |
Congenital smallness |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
Is a |
Microgyria |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
Is a |
Autosomal recessive hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
Is a |
Agenesis of corpus callosum |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
Is a |
Hereditary disorder of nervous system (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
Finding site |
Gyrus of brain |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
Is a |
Multiple system malformation syndrome |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
Finding site |
Entire corpus callosum |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
Associated morphology |
Agenesis (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
Is a |
Developmental hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
Has interpretation |
Below reference range |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
Interprets |
Birth head circumference |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
Is a |
Congenital microcephaly (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
Associated morphology |
Abnormal smallness (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|