Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3659614016 |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3659615015 |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3659616019 |
Stratton Garcia Young syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5404577014 |
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5404578016 |
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3659614016 |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3659615015 |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3659616019 |
Stratton Garcia Young syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3659618018 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (for example long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (such as aortic root dilatation, mitral valve prolapse). |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5404577014 |
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5404578016 |
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3394681001000113 |
Brachydaktylie, mesomele, mit mentaler Retardierung und Herzfehlern |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
1013181000241117 |
syndrome de brachydactylie, mésomélie, déficience intellectuelle, malformation cardiaque |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
1013181000241117 |
syndrome de brachydactylie, mésomélie, déficience intellectuelle, malformation cardiaque |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3394681001000113 |
Brachydaktylie, mesomele, mit mentaler Retardierung und Herzfehlern |
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 |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Is a |
Congenital anomaly of cardiovascular system |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Finding site |
Face structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Finding site |
Structure of cardiovascular system (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Is a |
Intelligenzminderung |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Is a |
Multiple malformation syndrome with facial-limb defects as major feature |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Associated morphology |
anomalie du développement |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Is a |
Mesomelic dysplasia |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Is a |
Brachydactyly |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Associated morphology |
anomalie du développement |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Associated morphology |
Congenital dysplasia |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Finding site |
Bone structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Finding site |
Digit structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Associated morphology |
Abnormally short growth |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Associated morphology |
Dysplasia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Is a |
Chronic disease of cardiovascular system |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Is a |
Chronic mental disorder |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Is a |
Congenital anomaly of skeletal bone |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Clinical course |
Progressive |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Interprets |
Height / growth measure (observable entity) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Interprets |
Intellectual ability (observable entity) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Has interpretation |
Impaired (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Interprets |
Adaptation behavior |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Has interpretation |
Impaired (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Is a |
Mesomelic dysplasia of upper limb (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Interprets |
Length of radius |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Has interpretation |
Below reference range |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Interprets |
Length of ulna |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Has interpretation |
Below reference range |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Finding site |
Bone structure of radius |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Finding site |
Bone structure of ulna |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Associated morphology |
Dysplasia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Is a |
Genetic disease |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|