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 limb\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 limb\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 limb\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 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 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\Cardiovascular measurement - finding\Hypertension\Brachydactyly and arterial hypertension syndrome
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Brachydactyly and arterial hypertension syndrome
\Cardiovascular finding\Cardiovascular disease\Hypertension\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 syndrome\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Brachydactyly and arterial hypertension syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\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\Cardiovascular disease\Cardiovascular system hereditary disorder\Brachydactyly and arterial hypertension syndrome
\Disease\Disorder of body system\Cardiovascular disease\Hypertension\Brachydactyly and arterial hypertension syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Brachydactyly and arterial hypertension syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\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 limb\Disorder of hand\Congenital anomaly of hand\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Disorder of extremity\Disorder of upper limb\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 anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\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 syndrome\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Brachydactyly and arterial hypertension syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome
\Disease\Developmental disorder\Congenital anomaly\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 anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3321268011 Brachydactyly and arterial hypertension syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3321269015 Brachydactyly and arterial hypertension syndrome en Synonym Active Case insensitive SNOMED CT core

3321270019 Bilginturan brachydactyly en Synonym Active Case sensitive SNOMED CT core

3321271015 Bilginturan syndrome en Synonym Active Case sensitive SNOMED CT core

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

3321273017 A rare genetic brachydactyly syndrome with the association of brachydactyly type E and hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and if untreated, most patients will have had a stroke by the age of 50. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachydactyly and arterial hypertension syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Brachydactyly and arterial hypertension syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Brachydactyly and arterial hypertension syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Brachydactyly and arterial hypertension syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Brachydactyly and arterial hypertension syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Brachydactyly and arterial hypertension syndrome	Finding site	Systemic circulatory system structure	true	Inferred relationship	Some	4
Brachydactyly and arterial hypertension syndrome	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	1
Brachydactyly and arterial hypertension syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Brachydactyly and arterial hypertension syndrome	Finding site	Entire digit	true	Inferred relationship	Some	1
Brachydactyly and arterial hypertension syndrome	Finding site	Bone structure of hand	true	Inferred relationship	Some	2
Brachydactyly and arterial hypertension syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Brachydactyly and arterial hypertension syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Brachydactyly and arterial hypertension syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Brachydactyly and arterial hypertension syndrome	Is a	Hypertension	true	Inferred relationship	Some
Brachydactyly and arterial hypertension syndrome	Is a	Brachydactyly syndrome type E	true	Inferred relationship	Some
Brachydactyly and arterial hypertension syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Brachydactyly and arterial hypertension syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Brachydactyly and arterial hypertension syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Brachydactyly and arterial hypertension syndrome	Finding site	Systemic circulatory system structure	false	Inferred relationship	Some
Brachydactyly and arterial hypertension syndrome	Has definitional manifestation	Finding of increased blood pressure	false	Inferred relationship	Some
Brachydactyly and arterial hypertension syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Brachydactyly and arterial hypertension syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Brachydactyly and arterial hypertension syndrome	Finding site	Bone structure of hand	false	Inferred relationship	Some	4
Brachydactyly and arterial hypertension syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	5
Brachydactyly and arterial hypertension syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Brachydactyly and arterial hypertension syndrome	Finding site	Entire digit	false	Inferred relationship	Some	5
Brachydactyly and arterial hypertension syndrome	Has interpretation	Increased	true	Inferred relationship	Some	3
Brachydactyly and arterial hypertension syndrome	Interprets	Blood pressure	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3321268011	Brachydactyly and arterial hypertension syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321269015	Brachydactyly and arterial hypertension syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3321270019	Bilginturan brachydactyly	en	Synonym	Active	Case sensitive	SNOMED CT core
3321271015	Bilginturan syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3321272010	Brachydactyly type E with short stature and hypertension	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3321273017	A rare genetic brachydactyly syndrome with the association of brachydactyly type E and hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and if untreated, most patients will have had a stroke by the age of 50.	en	Definition	Active	Case sensitive	SNOMED CT core