63711009: Brachydactyly syndrome type E (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
\Deformity (finding)\Congenital deformity (disorder)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly syndrome type E

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

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

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly syndrome type E
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia group (disorder)\Brachydactyly syndrome type E
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group (disorder)\Brachydactyly syndrome type E
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Brachydactyly syndrome type E
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly syndrome type E
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type E
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Brachydactyly syndrome type E
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Acromesomelic dysplasia group (disorder)\Brachydactyly syndrome type E
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group (disorder)\Brachydactyly syndrome type E
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia group (disorder)\Brachydactyly syndrome type E
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group (disorder)\Brachydactyly syndrome type E
\Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type E
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Brachydactyly syndrome type E
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Brachydactyly syndrome type E
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Brachydactyly syndrome type E
\Disease\Disorder of limb\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly syndrome type E
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type E
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Brachydactyly syndrome type E
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group (disorder)\Brachydactyly syndrome type E
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly syndrome type E
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia group (disorder)\Brachydactyly syndrome type E
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group (disorder)\Brachydactyly syndrome type E
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Brachydactyly syndrome type E
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly syndrome type E
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type E
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Brachydactyly syndrome type E

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachydactyly syndrome type E	Is a	Skeletal dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type E	Is a	Brachydactyly	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type E	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly syndrome type E	Associated morphology	Abnormally short growth	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly syndrome type E	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type E	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly syndrome type E	Finding site	Musculoskeletal system structure of digit (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type E	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly syndrome type E	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly syndrome type E	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type E	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly syndrome type E	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly syndrome type E	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly syndrome type E	Is a	Acromesomelic dysplasia group (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type E	Finding site	Musculoskeletal structure of limb (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type E	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly syndrome type E	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly syndrome type E	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly syndrome type E	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly syndrome type E	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Brachydactyly syndrome type E	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Brachydactyly syndrome type E	Is a	Finding of bone in hand	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type E	Is a	Congenital anomaly of hand (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type E	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Brachydactyly syndrome type E	Finding site	Bone structure of hand (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Brachydactyly syndrome type E	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Brachydactyly syndrome type E	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Brachydactyly syndrome type E	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly syndrome type E	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly syndrome type E	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly syndrome type E	Finding site	Entire digit	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly syndrome type E	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly syndrome type E	Finding site	Entire digit	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly syndrome type E	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly syndrome type E	Finding site	Bone structure of hand (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly syndrome type E	Is a	Congenital dysplasia of limb (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Brachydactyly and arterial hypertension syndrome (disorder)	Is a	True	Brachydactyly syndrome type E	Inferred relationship	Existential restriction modifier (core metadata concept)
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Is a	False	Brachydactyly syndrome type E	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
105893010	Brachydactyly syndrome type E	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
803025018	Brachydactyly syndrome type E (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
105893010	Brachydactyly syndrome type E	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
803025018	Brachydactyly syndrome type E (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3418241001000117	Brachydaktylie Typ E	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
108011000077112	syndrome avec brachydactylie type E	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
108011000077112	syndrome avec brachydactylie type E	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3418241001000117	Brachydaktylie Typ E	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module