Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3654656015 |
Zaki Gleeson syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3654895016 |
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3654896015 |
Microcephaly, cerebellar hypoplasia, congenital heart conduction defect syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3654897012 |
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
5404367013 |
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5404368015 |
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterised by growth failure, global developmental delay, profound intellectual disability, autistic behaviours, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3654656015 |
Zaki Gleeson syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3654895016 |
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3654896015 |
Microcephaly, cerebellar hypoplasia, congenital heart conduction defect syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3654897012 |
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3654898019 |
A rare genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behavior, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3654899010 |
A rare genetic congenital anomalies/dysmorphic syndrome characterised by growth failure, global developmental delay, profound intellectual disability, autistic behaviour, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5404367013 |
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5404368015 |
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterised by growth failure, global developmental delay, profound intellectual disability, autistic behaviours, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3428641001000113 |
Mikrozephalie-zerebelläre Hypoplasie-kardiale Reizleitungsstörung-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
879041000172112 |
syndrome de microcéphalie-hypoplasie cérébelleuse-trouble de la conduction cardiaque |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
879041000172112 |
syndrome de microcéphalie-hypoplasie cérébelleuse-trouble de la conduction cardiaque |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3428641001000113 |
Mikrozephalie-zerebelläre Hypoplasie-kardiale Reizleitungsstörung-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 |
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Is a |
microcéphalie |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Is a |
Congenital cerebellar hypoplasia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Is a |
Multiple malformation syndrome with facial-limb defects as major feature |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Is a |
Autosomal recessive hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Is a |
Intelligenzminderung |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Is a |
Congenital conduction defect |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Is a |
Cardiovascular system hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Is a |
Hereditary disorder of nervous system (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Finding site |
Cardiac conducting system structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Associated morphology |
anomalie du développement |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Associated morphology |
Hypoplasia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Finding site |
Cerebellar structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Finding site |
Limb structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Finding site |
Face structure (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Finding site |
Limb structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Associated morphology |
anomalie du développement |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Finding site |
Face structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Associated morphology |
Congenital smallness |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Finding site |
Brain structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Is a |
Developmental hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Is a |
Congenital microcephaly (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Interprets |
Birth head circumference |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Finding site |
Head structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Has interpretation |
Below reference range |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Interprets |
Intellectual ability (observable entity) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Has interpretation |
Impaired (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Interprets |
Adaptation behavior |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Has interpretation |
Impaired (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Associated morphology |
Abnormal smallness (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|