721009008: Heart defect and limb shortening syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of limb\Heart defect and limb shortening syndrome
\Deformity\Congenital deformity\Longitudinal deficiency of limb\Heart defect and limb shortening syndrome

\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Heart defect and limb shortening syndrome

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of limb\Heart defect and limb shortening syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of limb\Heart defect and limb shortening syndrome

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Heart defect and limb shortening syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Heart defect and limb shortening syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Heart defect and limb shortening syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Heart defect and limb shortening syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Heart defect and limb shortening syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Heart defect and limb shortening syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Heart defect and limb shortening syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Heart defect and limb shortening syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Heart defect and limb shortening syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Heart defect and limb shortening syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Heart defect and limb shortening syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Heart defect and limb shortening syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Heart defect and limb shortening syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Heart defect and limb shortening syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Heart defect and limb shortening syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease\Heart defect and limb shortening syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Heart defect and limb shortening syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Heart defect and limb shortening syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Heart defect and limb shortening syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Heart defect and limb shortening syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Heart defect and limb shortening syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Heart defect and limb shortening syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Heart defect and limb shortening syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Heart defect and limb shortening syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Heart defect and limb shortening syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Heart defect and limb shortening syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Heart defect and limb shortening syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Heart defect and limb shortening syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Heart defect and limb shortening syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Heart defect and limb shortening syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease\Heart defect and limb shortening syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Heart defect and limb shortening syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Heart defect and limb shortening syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Heart defect and limb shortening 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\Heart defect and limb shortening syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Heart defect and limb shortening syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Heart defect and limb shortening syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of limb\Heart defect and limb shortening syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Heart defect and limb shortening syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Heart defect and limb shortening syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Heart defect and limb shortening syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Heart defect and limb shortening syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Heart defect and limb shortening syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Heart defect and limb shortening syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Heart defect and limb shortening syndrome
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb\Heart defect and limb shortening syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Heart defect and limb shortening syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Heart defect and limb shortening syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Heart defect and limb shortening syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Heart defect and limb shortening syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Heart defect and limb shortening syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Heart defect and limb shortening syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Heart defect and limb shortening syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Heart defect and limb shortening syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Heart defect and limb shortening syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb\Heart defect and limb shortening syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Heart defect and limb shortening syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Heart defect and limb shortening syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Heart defect and limb shortening syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Heart defect and limb shortening syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Heart defect and limb shortening syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Heart defect and limb shortening syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3323022014 Heart defect and limb shortening syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3323023016 Heart defect and limb shortening syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3323024010 Cardioskeletal syndrome Kuwaiti type en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Heart defect and limb shortening syndrome	Is a	Congenital heart disease	true	Inferred relationship	Existential restriction modifier
Heart defect and limb shortening syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Existential restriction modifier
Heart defect and limb shortening syndrome	Is a	Longitudinal deficiency of limb	true	Inferred relationship	Existential restriction modifier
Heart defect and limb shortening syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Heart defect and limb shortening syndrome	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Existential restriction modifier
Heart defect and limb shortening syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Heart defect and limb shortening syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Heart defect and limb shortening syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Heart defect and limb shortening syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Heart defect and limb shortening syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Heart defect and limb shortening syndrome	Finding site	Heart structure	false	Inferred relationship	Existential restriction modifier	3
Heart defect and limb shortening syndrome	Associated morphology	Abnormal shortening	false	Inferred relationship	Existential restriction modifier	4
Heart defect and limb shortening syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Heart defect and limb shortening syndrome	Finding site	Entire limb	false	Inferred relationship	Existential restriction modifier	4
Heart defect and limb shortening syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	5
Heart defect and limb shortening syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Heart defect and limb shortening syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	5
Heart defect and limb shortening syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Heart defect and limb shortening syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	3
Heart defect and limb shortening syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Heart defect and limb shortening syndrome	Is a	Congenital anomaly of limb	false	Inferred relationship	Existential restriction modifier
Heart defect and limb shortening syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Heart defect and limb shortening syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Heart defect and limb shortening syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Heart defect and limb shortening syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Heart defect and limb shortening syndrome	Finding site	Heart structure	true	Inferred relationship	Existential restriction modifier	2
Heart defect and limb shortening syndrome	Associated morphology	Abnormal shortening	true	Inferred relationship	Existential restriction modifier	1
Heart defect and limb shortening syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Heart defect and limb shortening syndrome	Finding site	Entire limb	true	Inferred relationship	Existential restriction modifier	1
Heart defect and limb shortening syndrome	Is a	Congenital deformity	false	Inferred relationship	Existential restriction modifier
Heart defect and limb shortening syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	3
Heart defect and limb shortening syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Heart defect and limb shortening syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

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
3323022014	Heart defect and limb shortening syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3323023016	Heart defect and limb shortening syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3323024010	Cardioskeletal syndrome Kuwaiti type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module