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

SNOMED CT Concept\Clinical finding\...

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

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome

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

\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

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

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\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 of head\Disorder of face\Congenital anomaly of face\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 of head\Congenital anomaly of head\Congenital anomaly of face\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

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Brachydactyly, mesomelia, intellectual disability, heart defect syndrome

\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

\Cardiovascular finding\Disorder of cardiovascular system\...

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

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

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

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

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

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 SNOMED CT core module
3659615015 Brachydactyly, mesomelia, intellectual disability, heart defect syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3659616019 Stratton Garcia Young syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Is a	Congenital anomaly of cardiovascular system	true	Inferred relationship	Existential restriction modifier
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Finding site	Structure of cardiovascular system	true	Inferred relationship	Existential restriction modifier	1
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Is a	Mesomelic dysplasia	true	Inferred relationship	Existential restriction modifier
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Is a	Brachydactyly	true	Inferred relationship	Existential restriction modifier
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	4
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	4
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier	3
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Associated morphology	Abnormally short growth	true	Inferred relationship	Existential restriction modifier	3
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	4
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Is a	Chronic disease of cardiovascular system	true	Inferred relationship	Existential restriction modifier
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Is a	Chronic mental disorder	false	Inferred relationship	Existential restriction modifier
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	5
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	6
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	7
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	7
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	8
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	8

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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	SNOMED CT core module
3659615015	Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3659616019	Stratton Garcia Young syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module