Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3728167013 |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3728168015 |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3728169011 |
SAMS syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3728170012 |
SAMS (short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies) syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3728171011 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate and simple, dysplastic pinnae with preauricular pits/tags. Caused by homozygous mutation in the GSC gene on chromosome 14q32. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3728167013 |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3728168015 |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3728169011 |
SAMS syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3728170012 |
SAMS (short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies) syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3728171011 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate and simple, dysplastic pinnae with preauricular pits/tags. Caused by homozygous mutation in the GSC gene on chromosome 14q32. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3437151001000116 |
Kleinwuchs-Hörkanalatresie-Mandibuläre Hypoplasie-Skelettanomalien-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
922641000172118 |
syndrome de petite taille-atrésie du canal auditif-hypoplasie mandibulaire-anomalies squelettiques |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
939441000172111 |
syndrome SAMS (short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies) |
fr |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
922641000172118 |
syndrome de petite taille-atrésie du canal auditif-hypoplasie mandibulaire-anomalies squelettiques |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
939441000172111 |
syndrome SAMS (short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies) |
fr |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3437151001000116 |
Kleinwuchs-Hörkanalatresie-Mandibuläre Hypoplasie-Skelettanomalien-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 |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Is a |
Autosomal recessive hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Finding site |
Bone structure of mandible |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Finding site |
Bone structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Is a |
Multiple malformation syndrome with facial defects as major feature |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Is a |
Congenital micrognathism |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Finding site |
External auditory canal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Associated morphology |
Congenital dysplasia |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Is a |
Skeletal dysplasia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Is a |
Short stature disorder (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Is a |
Congenital atresia of external auditory canal |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Associated morphology |
Hypoplasia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Is a |
Auditory system hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Associated morphology |
Congenital atresia |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Is a |
Hereditary disorder of musculoskeletal system |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Associated morphology |
Dysplasia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Associated morphology |
Morphologically abnormal structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Finding site |
Face structure (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Is a |
Developmental hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Interprets |
Height / growth measure (observable entity) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Associated morphology |
Atresia (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|