Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
4970620017 |
7q36.3 microduplication syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
4970621018 |
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
4970622013 |
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
5399858017 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5399859013 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
4970620017 |
7q36.3 microduplication syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
4970621018 |
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
4970622013 |
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
4970623015 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5399858017 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5399859013 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3387221001000115 |
Corpus callosum-Agenesie-Makrozephalie-Hypertelorismus-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3387221001000115 |
Corpus callosum-Agenesie-Makrozephalie-Hypertelorismus-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 |
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Is a |
Intelligenzminderung |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Is a |
Congenital macrocephaly |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Is a |
Agenesis of corpus callosum |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Is a |
Multiple malformation syndrome with facial defects as major feature |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Is a |
Genetic disease |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Interprets |
Head circumference |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Has interpretation |
Above reference range |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Finding site |
Head structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Associated morphology |
Enlargement (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Finding site |
Face structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Finding site |
Entire corpus callosum |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Associated morphology |
Agenesis (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Interprets |
Adaptation behavior |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Has interpretation |
Impaired (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Interprets |
Intellectual ability (observable entity) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Has interpretation |
Impaired (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|