Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
5069348015 |
Microphthalmia, microtia, foetal akinesia syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
5069349011 |
Microphthalmia, microtia, fetal akinesia syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
5069350011 |
Microphthalmia, microtia, fetal akinesia syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
5069351010 |
Thomas Jewett Raines syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5069354019 |
A rare lethal multiple congenital anomalies/dysmorphic syndrome with the association of fetal akinesia sequence, bilateral microphthalmia, microtia and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
Outbound Relationships |
Type |
Target |
Active |
Characteristic |
Refinability |
Group |
Values |
Microphthalmia, microtia, fetal akinesia syndrome |
est un(e) (attribut) |
Bilateral microphthalmos |
true |
Inferred relationship |
Some |
|
|
Microphthalmia, microtia, fetal akinesia syndrome |
est un(e) (attribut) |
Akinesia |
true |
Inferred relationship |
Some |
|
|
Microphthalmia, microtia, fetal akinesia syndrome |
est un(e) (attribut) |
microtie (trouble) |
true |
Inferred relationship |
Some |
|
|
Microphthalmia, microtia, fetal akinesia syndrome |
est un(e) (attribut) |
Movement disorder |
true |
Inferred relationship |
Some |
|
|
Microphthalmia, microtia, fetal akinesia syndrome |
est un(e) (attribut) |
Common arterial trunk (truncus arteriosus) |
true |
Inferred relationship |
Some |
|
|
Microphthalmia, microtia, fetal akinesia syndrome |
est un(e) (attribut) |
Genetic disease |
true |
Inferred relationship |
Some |
|
|
Microphthalmia, microtia, fetal akinesia syndrome |
est un(e) (attribut) |
syndrome de malformations multisystémiques |
true |
Inferred relationship |
Some |
|
|
Microphthalmia, microtia, fetal akinesia syndrome |
interprète (attribut) |
Movement (observable entity) |
true |
Inferred relationship |
Some |
6 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
survenue (attribut) |
congénital |
true |
Inferred relationship |
Some |
1 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
localisation d'une constatation (attribut) |
Structure of truncus arteriosus of fetus |
true |
Inferred relationship |
Some |
1 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
1 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
survenue (attribut) |
congénital |
true |
Inferred relationship |
Some |
2 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
localisation d'une constatation (attribut) |
oreille externe (structure corporelle) |
true |
Inferred relationship |
Some |
2 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
morphologie associée (attribut) |
Congenital smallness |
true |
Inferred relationship |
Some |
2 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
2 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
survenue (attribut) |
congénital |
true |
Inferred relationship |
Some |
3 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
localisation d'une constatation (attribut) |
œil droit entier |
true |
Inferred relationship |
Some |
3 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
morphologie associée (attribut) |
Congenital smallness |
true |
Inferred relationship |
Some |
3 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
3 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
survenue (attribut) |
congénital |
true |
Inferred relationship |
Some |
4 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
localisation d'une constatation (attribut) |
œil gauche entier |
true |
Inferred relationship |
Some |
4 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
morphologie associée (attribut) |
Congenital smallness |
true |
Inferred relationship |
Some |
4 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
4 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
survenue (attribut) |
congénital |
true |
Inferred relationship |
Some |
5 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
localisation d'une constatation (attribut) |
cœur |
true |
Inferred relationship |
Some |
5 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
morphologie associée (attribut) |
Abnormal communication |
true |
Inferred relationship |
Some |
5 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
5 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
morphologie associée (attribut) |
Persistent truncus arteriosus (morphologic abnormality) |
true |
Inferred relationship |
Some |
1 |
|