Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
5099370014 |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
5099371013 |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
5400287019 |
A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by mid-gestation lethality and features of a ciliopathy. Clinical manifestations include hydrocephalus, cerebellar vermis hypoplasia, corpus callosum agenesis, duodenal atresia, gastrointestinal malrotation, bilateral renal hypoplasia, and dysmorphic craniofacial features (such as microcephaly, hypertelorism, low-set ears, prominent nose, short columella, cleft palate, micrognathia, and wide mouth). |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5400288012 |
A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterised by mid-gestation lethality and features of a ciliopathy. Clinical manifestations include hydrocephalus, cerebellar vermis hypoplasia, corpus callosum agenesis, duodenal atresia, gastrointestinal malrotation, bilateral renal hypoplasia, and dysmorphic craniofacial features (such as microcephaly, hypertelorism, low-set ears, prominent nose, short columella, cleft palate, micrognathia, and wide mouth). |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5099370014 |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
5099371013 |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
5099376015 |
A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of mid-gestation lethality and features of a ciliopathy. Clinical manifestations include hydrocephalus, cerebellar vermis hypoplasia, corpus callosum agenesis, duodenal atresia, gastrointestinal malrotation, bilateral renal hypoplasia and dysmorphic craniofacial features (such as microcephaly, hypertelorism, low-set ears, prominent nose, short columella, cleft palate, micrognathia and wide mouth). |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5400287019 |
A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by mid-gestation lethality and features of a ciliopathy. Clinical manifestations include hydrocephalus, cerebellar vermis hypoplasia, corpus callosum agenesis, duodenal atresia, gastrointestinal malrotation, bilateral renal hypoplasia, and dysmorphic craniofacial features (such as microcephaly, hypertelorism, low-set ears, prominent nose, short columella, cleft palate, micrognathia, and wide mouth). |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5400288012 |
A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterised by mid-gestation lethality and features of a ciliopathy. Clinical manifestations include hydrocephalus, cerebellar vermis hypoplasia, corpus callosum agenesis, duodenal atresia, gastrointestinal malrotation, bilateral renal hypoplasia, and dysmorphic craniofacial features (such as microcephaly, hypertelorism, low-set ears, prominent nose, short columella, cleft palate, micrognathia, and wide mouth). |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
Outbound Relationships |
Type |
Target |
Active |
Characteristic |
Refinability |
Group |
Values |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Is a |
Bilateral renal hypoplasia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Is a |
Developmental hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Is a |
Digestive system hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Is a |
Hereditary disorder of nervous system (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Is a |
Hereditary nephropathy (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Is a |
Congenital atresia of duodenum |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Is a |
Congenital anomaly of brain |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Is a |
Multiple malformation syndrome with facial defects as major feature |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Is a |
Autosomal recessive hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Finding site |
Brain structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Finding site |
Face structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Finding site |
rein gauche |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Associated morphology |
Hypoplasia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Finding site |
rein droit |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Associated morphology |
Hypoplasia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Finding site |
Duodenal structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Associated morphology |
Congenital atresia |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) |
Associated morphology |
Atresia (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|