Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3467477010 |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3467478017 |
Czeizel Losonci syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3467479013 |
Split hand, urinary anomalies, spina bifida syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3467481010 |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
5403637016 |
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403638014 |
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterised by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3467477010 |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3467478017 |
Czeizel Losonci syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3467479013 |
Split hand, urinary anomalies, spina bifida syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3467481010 |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3467480011 |
An exceedingly rare severe congenital genetic malformation disorder with characteristics of split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia and radial defects. There have been no further descriptions in the literature since 1987. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403637016 |
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403638014 |
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterised by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3436201001000112 |
Czeizel-Losonci-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
5490561000241117 |
syndrome de la main fendue, uropathie obstructive, spina bifida et défaut diaphragmatique |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
5490561000241117 |
syndrome de la main fendue, uropathie obstructive, spina bifida et défaut diaphragmatique |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3436201001000112 |
Czeizel-Losonci-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 |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Is a |
Congenital anomaly of skeletal bone |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Is a |
Autosomal dominant hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Is a |
Congenital cleft hand |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Is a |
Multiple malformation syndrome with limb defect as major feature |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Is a |
Spina bifida |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Is a |
Congenital malformation of the urinary system |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Is a |
Connective tissue hereditary disorder |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Is a |
Hereditary disorder of musculoskeletal system |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Is a |
Hereditary disorder of nervous system (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Is a |
Hereditary disorder of the urinary system |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Associated morphology |
Developmental failure of fusion (morphologic abnormality) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Associated morphology |
anomalie du développement |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Associated morphology |
Congenital absence (morphologic abnormality) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Finding site |
Entire digit |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Associated morphology |
anomalie du développement |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
11 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
11 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Finding site |
Nervous system structure (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
11 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Associated morphology |
Developmental failure of fusion (morphologic abnormality) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Finding site |
Urinary system structure (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Associated morphology |
anomalie du développement |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Finding site |
Hand structure (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Finding site |
Neural tube structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Finding site |
Structure of arch of vertebra |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Associated morphology |
Developmental failure of fusion (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Associated morphology |
Developmental failure of fusion (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Finding site |
Hand structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Finding site |
Urinary system structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Finding site |
Structure of arch of vertebra |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Finding site |
Neural tube structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Associated morphology |
Absence (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Finding site |
Entire finger |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Is a |
Developmental hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|