Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3332045016 |
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3332046015 |
Duane anomaly, myopathy, scoliosis syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3332047012 |
Verloes Deprez syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
6113811000146111 |
syndroom van Verloes-Deprez |
nl |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6798381000146112 |
syndroom van Duane-anomalie, myopathie en scoliose (aandoening) |
nl |
Fully specified name |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6798391000146114 |
syndroom van Duane-anomalie, myopathie en scoliose |
nl |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3332048019 |
Syndrome with the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of siblings. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
Outbound Relationships |
Type |
Target |
Active |
Characteristic |
Refinability |
Group |
Values |
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Is a |
Multiple system malformation syndrome |
true |
Inferred relationship |
Some |
|
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Is a |
Autosomal recessive hereditary disorder |
true |
Inferred relationship |
Some |
|
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Is a |
Congenital anomaly of skeletal muscle |
true |
Inferred relationship |
Some |
|
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Is a |
Duane's syndrome, type 3 |
true |
Inferred relationship |
Some |
|
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Is a |
Scoliosis deformity of spine |
true |
Inferred relationship |
Some |
|
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Is a |
Hereditary disorder of musculoskeletal system |
true |
Inferred relationship |
Some |
|
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Is a |
Hereditary disorder of nervous system |
true |
Inferred relationship |
Some |
|
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Is a |
Hereditary disorder of the visual system (disorder) |
true |
Inferred relationship |
Some |
|
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Finding site |
Structure of nervous system (body structure) |
false |
Inferred relationship |
Some |
|
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Finding site |
Eyelid structure |
false |
Inferred relationship |
Some |
|
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Has definitional manifestation |
Retraction (finding) |
false |
Inferred relationship |
Some |
|
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Associated morphology |
gebrekkige ontwikkeling (afwijkende morfologie) |
false |
Inferred relationship |
Some |
7 |
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Some |
7 |
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Associated morphology |
gebrekkige ontwikkeling (afwijkende morfologie) |
false |
Inferred relationship |
Some |
6 |
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Some |
6 |
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Associated morphology |
Lateral abnormal curvature |
false |
Inferred relationship |
Some |
8 |
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Finding site |
Musculoskeletal structure of spine |
false |
Inferred relationship |
Some |
8 |
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Finding site |
Skeletal muscle structure |
false |
Inferred relationship |
Some |
6 |
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Finding site |
Eye structure |
false |
Inferred relationship |
Some |
7 |
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Interprets |
Evaluation procedure (procedure) |
false |
Inferred relationship |
Some |
|
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Finding site |
Abducens nerve structure |
true |
Inferred relationship |
Some |
4 |
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Some |
4 |
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Is a |
Myoneural disorder |
false |
Inferred relationship |
Some |
|
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Associated morphology |
Lateral abnormal curvature |
true |
Inferred relationship |
Some |
3 |
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Finding site |
Skeletal muscle structure |
true |
Inferred relationship |
Some |
1 |
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Some |
1 |
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
4 |
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Finding site |
Eye structure |
true |
Inferred relationship |
Some |
2 |
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
3 |
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure (morphologic abnormality) |
true |
Inferred relationship |
Some |
4 |
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure (morphologic abnormality) |
true |
Inferred relationship |
Some |
2 |
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Finding site |
Musculoskeletal structure of spine |
true |
Inferred relationship |
Some |
3 |
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Some |
2 |
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
1 |
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
2 |
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure (morphologic abnormality) |
true |
Inferred relationship |
Some |
1 |
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Is a |
Developmental hereditary disorder |
true |
Inferred relationship |
Some |
|
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Is a |
Hereditary myopathy (disorder) |
true |
Inferred relationship |
Some |
|
|
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Is a |
Congenital combined disorder of muscle and peripheral nerve (disorder) |
true |
Inferred relationship |
Some |
|
|