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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 Reference Sets
3659614016 Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3659615015 Brachydactyly, mesomelia, intellectual disability, heart defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3659616019 Stratton Garcia Young syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)
2111151000172114 "syndrome de brachydactylie, mésomélie, déficience intellectuelle, malformation cardiaque" fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2111171000172119 syndrome de Stratton-Garcia-Young fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2111141000172112 "syndroom van brachydactylie, mesomelie, verstandelijke beperking en hartdefect" nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2111161000172111 Stratton-Garcia-Young-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2111181000172116 syndroom van Stratton-Garcia-Young nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)

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 Some
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Finding site Face structure true Inferred relationship Some 2
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Finding site Structure of cardiovascular system (body structure) true Inferred relationship Some 1
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 2
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Is a Mesomelic dysplasia true Inferred relationship Some
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Is a Brachydactyly true Inferred relationship Some
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 1
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 4
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Finding site Bone structure true Inferred relationship Some 4
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Finding site Digit structure true Inferred relationship Some 3
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Associated morphology Abnormally short growth true Inferred relationship Some 3
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 4
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Is a Chronic disease of cardiovascular system true Inferred relationship Some
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Is a Chronic mental disorder true Inferred relationship Some
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 5
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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