Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3332194019 |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3332197014 |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3332198016 |
Guttmacher syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5402942017 |
Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5402943010 |
Guttmacher syndrome is an extremely rare syndrome characterised by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3332194019 |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
en |
Fully specified name |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
3332194019 |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3332197014 |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
3332197014 |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3332198016 |
Guttmacher syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3332199012 |
An extremely rare syndrome with characteristics of hypoplastic thumbs and halluces, fifth finger brachydactyly, postaxial polydactyly of the hands, short or uniphalangeal second toes with absent nails and hypospadias. It has been described in a father and his son and daughter. The affected patients have normal mental development. Except for postaxial polydactyly of the hands and uniphalangeal second toes with absent nails, features are in common with hand-foot-genital syndrome caused by mutations in the HOXA13 gene. In all three affected individuals, two different sequence alterations were identified in HOXA13 gene: a de novo missense mutation and a deletion in the promoter region of the gene, inherited from an unaffected parent, which may contribute to the phenotype in the affected individuals. The condition is inherited in an autosomal dominant manner. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5402942017 |
Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5402943010 |
Guttmacher syndrome is an extremely rare syndrome characterised by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3414341001000119 |
Guttmacher-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
5483941000241116 |
syndrome de déficit préaxial, polydactylie postaxiale et hypospadias |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
5483941000241116 |
syndrome de déficit préaxial, polydactylie postaxiale et hypospadias |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3414341001000119 |
Guttmacher-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 |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Is a |
Congenital anomaly of toe |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Is a |
Autosomal dominant hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Is a |
Multiple malformation syndrome with limb defect as major feature |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Is a |
Polydactyly of fingers |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Is a |
Dysostosis |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Is a |
Congenital undergrowth of partial lower limb |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Is a |
Brachydactyly of hand (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Is a |
Connective tissue hereditary disorder |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Is a |
Hereditary disorder of musculoskeletal system |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Associated morphology |
Abnormally short growth |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Associated morphology |
Supernumerary structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Finding site |
Finger structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Associated morphology |
Abnormally short growth |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Finding site |
Entire digit of hand |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Finding site |
Entire toe (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Associated morphology |
Congenital dysplasia |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Finding site |
Bone structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Finding site |
Finger structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Associated morphology |
Supernumerary structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Finding site |
Bone structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Associated morphology |
Congenital dysplasia |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Associated morphology |
Abnormally short growth |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Finding site |
Entire digit of hand |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Is a |
Congenital deformity of toe (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Associated morphology |
Dysplasia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Is a |
Developmental hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Is a |
Brachydactyly of toes |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|