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765761009: Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

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


0 descendants.

Expanded Value Set


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)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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