720568003: Brachydactyly and arterial hypertension syndrome (disorder)

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

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

\Finding of limb structure\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome (disorder)
\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 (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome (disorder)
\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 (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Brachydactyly syndrome type E\Brachydactyly and arterial hypertension syndrome (disorder)

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

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

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

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

Descriptions:

Expanded Value Set

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

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 (core metadata concept)	SNOMED CT core
3321269015	Brachydactyly and arterial hypertension syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321270019	Bilginturan brachydactyly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321271015	Bilginturan syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321272010	Brachydactyly type E with short stature and hypertension	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
990711000172119	brachydactylie type E avec petite taille et hypertension	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
2172871000172112	syndrome de Bilginturan	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
2196381000172113	syndrome de brachydactylie hypertension artérielle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
895311000172119	bilginturan brachydactylie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
2172851000172117	Bilginturan-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
2172861000172115	brachydactylie type E met kleine gestalte en hypertensie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
2172881000172110	Bilginturan-brachydactylie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
2172891000172113	syndroom van Bilginturan	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
2196371000172110	syndroom van brachydactylie en arteriële hypertensie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5993041000172112	brachydactylie, arteriële hypertensiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)