720568003: Brachydactyly and arterial hypertension syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper extremity\Disorder of hand\Congenital anomaly of hand\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of hand\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Finding of bone in hand\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity\Disorder of hand\Congenital anomaly of hand\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of hand\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of bone in hand\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome

\Cardiovascular finding\Finding of cardiovascular measurement\Hypertensive disorder, systemic arterial\Brachydactyly and arterial hypertension syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Brachydactyly and arterial hypertension syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Hypertensive disorder, systemic arterial\Brachydactyly and arterial hypertension syndrome

\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Finding of bone in hand\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Brachydactyly and arterial hypertension syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia group\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia group\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly and arterial hypertension syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Brachydactyly and arterial hypertension syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Brachydactyly and arterial hypertension syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Brachydactyly and arterial hypertension syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly and arterial hypertension syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Brachydactyly and arterial hypertension syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Brachydactyly and arterial hypertension syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Hypertensive disorder, systemic arterial\Brachydactyly and arterial hypertension syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Brachydactyly and arterial hypertension syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia group\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension 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\Acromesomelic dysplasia group\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia group\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Disorder of extremity\Disorder of upper extremity\Disorder of hand\Congenital anomaly of hand\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Disorder of extremity\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of hand\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia group\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Brachydactyly and arterial hypertension syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia group\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension 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

3321268011 Brachydactyly and arterial hypertension syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3321269015 Brachydactyly and arterial hypertension syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3321270019 Bilginturan brachydactyly en Synonym Active Entire term case sensitive SNOMED CT core module

3321271015 Bilginturan syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3321272010 Brachydactyly type E with short stature and hypertension en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachydactyly and arterial hypertension syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Brachydactyly and arterial hypertension syndrome	Is a	Hypertensive disorder, systemic arterial	true	Inferred relationship	Existential restriction modifier
Brachydactyly and arterial hypertension syndrome	Is a	Brachydactyly syndrome type E	true	Inferred relationship	Existential restriction modifier
Brachydactyly and arterial hypertension syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Brachydactyly and arterial hypertension syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Brachydactyly and arterial hypertension syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Brachydactyly and arterial hypertension syndrome	Finding site	Systemic circulatory system structure	false	Inferred relationship	Existential restriction modifier
Brachydactyly and arterial hypertension syndrome	Has definitional manifestation	Finding of increased blood pressure	false	Inferred relationship	Existential restriction modifier
Brachydactyly and arterial hypertension syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	4
Brachydactyly and arterial hypertension syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Brachydactyly and arterial hypertension syndrome	Finding site	Bone structure of hand	false	Inferred relationship	Existential restriction modifier	4
Brachydactyly and arterial hypertension syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier	5
Brachydactyly and arterial hypertension syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Brachydactyly and arterial hypertension syndrome	Finding site	Entire digit	false	Inferred relationship	Existential restriction modifier	5
Brachydactyly and arterial hypertension syndrome	Has interpretation	Increased	true	Inferred relationship	Existential restriction modifier	3
Brachydactyly and arterial hypertension syndrome	Interprets	Blood pressure	true	Inferred relationship	Existential restriction modifier	3
Brachydactyly and arterial hypertension syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Brachydactyly and arterial hypertension syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Brachydactyly and arterial hypertension syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Brachydactyly and arterial hypertension syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Brachydactyly and arterial hypertension syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Brachydactyly and arterial hypertension syndrome	Finding site	Systemic circulatory system structure	true	Inferred relationship	Existential restriction modifier	4
Brachydactyly and arterial hypertension syndrome	Associated morphology	Abnormally short growth	true	Inferred relationship	Existential restriction modifier	1
Brachydactyly and arterial hypertension syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Brachydactyly and arterial hypertension syndrome	Finding site	Entire digit	true	Inferred relationship	Existential restriction modifier	1
Brachydactyly and arterial hypertension syndrome	Finding site	Bone structure of hand	true	Inferred relationship	Existential restriction modifier	2
Brachydactyly and arterial hypertension syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Brachydactyly and arterial hypertension 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
3321268011	Brachydactyly and arterial hypertension syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3321269015	Brachydactyly and arterial hypertension syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3321270019	Bilginturan brachydactyly	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3321271015	Bilginturan syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3321272010	Brachydactyly type E with short stature and hypertension	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module