Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3317497018 |
Multiple epiphyseal dysplasia Beighton type (disorder) |
en |
Fully specified name |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
3317498011 |
Multiple epiphyseal dysplasia Beighton type |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
3317499015 |
Multiple epiphyseal dysplasia with myopia and deafness syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3317497018 |
Multiple epiphyseal dysplasia Beighton type (disorder) |
en |
Fully specified name |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
3317498011 |
Multiple epiphyseal dysplasia Beighton type |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
3317499015 |
Multiple epiphyseal dysplasia with myopia and deafness syndrome |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
3317499015 |
Multiple epiphyseal dysplasia with myopia and deafness syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3317500012 |
A skeletal dysplasia with characteristics of epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness and stubby digits. It has been described in one family in which the mother and three of her four children were affected. The condition is caused by a mutation in the COL2A1 gene (12q13.11-q13.2) and is transmitted in an autosomal dominant manner. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3448081001000113 |
Dysplasie, epiphysäre multiple, Typ Beighton |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
885601000172114 |
dysplasie épiphysaire multiple type Beighton |
fr |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
997361000172118 |
syndrome de dysplasie épiphysaire multiple, myopie, surdité |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
885601000172114 |
dysplasie épiphysaire multiple type Beighton |
fr |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
997361000172118 |
syndrome de dysplasie épiphysaire multiple, myopie, surdité |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3448081001000113 |
Dysplasie, epiphysäre multiple, Typ Beighton |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |