Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
4635488014 |
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
4635490010 |
Lethal hydranencephaly, diaphragmatic hernia syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
5399410017 |
Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5399411018 |
Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterised by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
4635488014 |
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
4635490010 |
Lethal hydranencephaly, diaphragmatic hernia syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
4635489018 |
A rare genetic lethal multiple congenital anomalies syndrome with characteristics of hydranencephaly and diaphragmatic hernia along with macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5399410017 |
Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5399411018 |
Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterised by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3392851001000112 |
Letale Hydranenzephalie-Zwerchfellhernie-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6348221000241110 |
syndrome létal d'hydranencéphalie et hernie diaphragmatique |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6348221000241110 |
syndrome létal d'hydranencéphalie et hernie diaphragmatique |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3392851001000112 |
Letale Hydranenzephalie-Zwerchfellhernie-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 |
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Is a |
Congenital macrocephaly |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Is a |
Congenital diaphragmatic hernia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Is a |
Combined malformation of central nervous system and skeletal muscle |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Is a |
Hydranencephaly (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Is a |
Genetic disease |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Is a |
Multiple system malformation syndrome |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Interprets |
Head circumference |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Has interpretation |
Above reference range |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Finding site |
Diaphragm structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Associated morphology |
Hernial opening (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Finding site |
Structure of abdominopelvic cavity and/or content of abdominopelvic cavity and/or anterior abdominal wall (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Associated morphology |
Herniated structure (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Finding site |
Cerebral hemisphere structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Associated morphology |
Absence (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Finding site |
Head structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Associated morphology |
Enlargement (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) |
Finding site |
Intra-abdominopelvic structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|