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

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Deformity (finding)\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)

\Finding of limb structure\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)

\Cardiovascular finding\Disorder of cardiovascular system (disorder)\...

\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)

\Chronic disease of cardiovascular system\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)

\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Chronic disease of cardiovascular system\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Mental disorder\Chronic mental disorder\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Chronic disease\Chronic mental disorder\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Chronic disease\Chronic disease of cardiovascular system\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\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)

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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