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 |
5400157019 |
A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by 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 |
5400158012 |
A rare lethal multiple congenital anomalies/dysmorphic syndrome characterised by 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 |
Is a |
Bilateral microphthalmos |
true |
Inferred relationship |
Some |
|
|
Microphthalmia, microtia, fetal akinesia syndrome |
Is a |
Akinesia |
true |
Inferred relationship |
Some |
|
|
Microphthalmia, microtia, fetal akinesia syndrome |
Is a |
Microtia |
true |
Inferred relationship |
Some |
|
|
Microphthalmia, microtia, fetal akinesia syndrome |
Is a |
Movement disorder |
false |
Inferred relationship |
Some |
|
|
Microphthalmia, microtia, fetal akinesia syndrome |
Is a |
Common truncus arteriosus (disorder) |
true |
Inferred relationship |
Some |
|
|
Microphthalmia, microtia, fetal akinesia syndrome |
Is a |
Genetic disease |
true |
Inferred relationship |
Some |
|
|
Microphthalmia, microtia, fetal akinesia syndrome |
Is a |
Multiple system malformation syndrome |
true |
Inferred relationship |
Some |
|
|
Microphthalmia, microtia, fetal akinesia syndrome |
Interprets |
Movement |
false |
Inferred relationship |
Some |
6 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Some |
1 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Finding site |
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 |
Occurrence |
Congenital |
true |
Inferred relationship |
Some |
2 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Finding site |
External ear structure |
false |
Inferred relationship |
Some |
2 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Associated morphology |
Congenital smallness |
false |
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 |
Occurrence |
Congenital |
true |
Inferred relationship |
Some |
3 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Finding site |
Entire right eye |
false |
Inferred relationship |
Some |
3 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Associated morphology |
Congenital smallness |
false |
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 |
Occurrence |
Congenital |
true |
Inferred relationship |
Some |
4 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Finding site |
Entire left eye |
false |
Inferred relationship |
Some |
4 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Associated morphology |
Congenital smallness |
false |
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 |
Occurrence |
Congenital |
true |
Inferred relationship |
Some |
5 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Finding site |
Heart structure |
true |
Inferred relationship |
Some |
5 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Associated morphology |
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 |
Associated morphology |
Persistent truncus arteriosus (morphologic abnormality) |
true |
Inferred relationship |
Some |
1 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Is a |
Arthrogryposis multiplex congenita |
true |
Inferred relationship |
Some |
|
|
Microphthalmia, microtia, fetal akinesia syndrome |
Interprets |
Range of joint movement |
true |
Inferred relationship |
Some |
7 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Has interpretation |
Decreased |
true |
Inferred relationship |
Some |
7 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Some |
6 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Finding site |
Structure of joint region |
true |
Inferred relationship |
Some |
6 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Associated morphology |
Contracture |
true |
Inferred relationship |
Some |
6 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
6 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Finding site |
Entire right eye proper |
false |
Inferred relationship |
Some |
3 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Finding site |
Entire left eye proper (body structure) |
true |
Inferred relationship |
Some |
4 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Finding site |
Entire right eye proper |
true |
Inferred relationship |
Some |
2 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Associated morphology |
Abnormal smallness (morphologic abnormality) |
true |
Inferred relationship |
Some |
2 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Finding site |
External ear structure |
true |
Inferred relationship |
Some |
3 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Associated morphology |
Abnormal smallness (morphologic abnormality) |
true |
Inferred relationship |
Some |
3 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Associated morphology |
Abnormal smallness (morphologic abnormality) |
true |
Inferred relationship |
Some |
4 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Finding site |
Joint structure of multiple body sites (body structure) |
true |
Inferred relationship |
Some |
8 |
|
Microphthalmia, microtia, fetal akinesia syndrome |
Associated morphology |
Contracture |
true |
Inferred relationship |
Some |
8 |
|