Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3452222014 |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3452223016 |
Splenogonadal fusion, limb defect, micrognathia syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3452224010 |
SGFLD (splenogonadal fusion limb defect syndrome) syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3452225011 |
Splenogonadal fusion limb defect syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
5403599012 |
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403600010 |
A rare dysostosis syndrome characterised by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3452222014 |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3452223016 |
Splenogonadal fusion, limb defect, micrognathia syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3452224010 |
SGFLD (splenogonadal fusion limb defect syndrome) syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3452225011 |
Splenogonadal fusion limb defect syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3452226012 |
A rare dysostosis syndrome with characteristics of abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It may also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403599012 |
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403600010 |
A rare dysostosis syndrome characterised by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3446641001000111 |
Splenogonadale Fusion-Extremitätenfehlbildung-Mikrognathie-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3446641001000111 |
Splenogonadale Fusion-Extremitätenfehlbildung-Mikrognathie-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 |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Is a |
Autosomal dominant hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Is a |
Multiple malformation syndrome with facial-limb defects as major feature |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Is a |
Congenital micrognathism |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Is a |
Splenogonadal fusion |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Is a |
Longitudinal deficiency of limb |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Is a |
Dysostosis |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Is a |
Connective tissue hereditary disorder |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Is a |
Hereditary disorder of musculoskeletal system |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Is a |
Reproductive system hereditary disorder (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Associated morphology |
Abnormally short growth |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Finding site |
Entire limb |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Associated morphology |
Congenital abnormal fusion |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Finding site |
Gonadal structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Associated morphology |
Congenital dysplasia |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Finding site |
Bone structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Associated morphology |
Hypoplasia |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Finding site |
Bone structure of mandible |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Associated morphology |
Congenital abnormal fusion |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Finding site |
Splenic structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Associated morphology |
Congenital abnormal fusion |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Finding site |
Gonadal structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Associated morphology |
Congenital abnormal fusion |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Finding site |
Splenic structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Associated morphology |
Congenital dysplasia |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Associated morphology |
Abnormally short growth |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Finding site |
Bone structure of mandible |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Finding site |
Entire limb |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Finding site |
Bone structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Associated morphology |
Hypoplasia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Is a |
Congenital deformity (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Associated morphology |
Dysplasia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Finding site |
Face structure (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Is a |
Developmental hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Finding site |
Gonadal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Associated morphology |
Abnormally fused structure (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Finding site |
Splenic structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Associated morphology |
Abnormally fused structure (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|