63711009: Brachydactyly syndrome type E (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

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

\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia group\Brachydactyly syndrome type E
\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
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia group\Brachydactyly syndrome type E
\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
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type E
\Disease\Disorder of extremity\Disorder of upper extremity\Disorder of hand\Congenital anomaly of hand\Brachydactyly syndrome type E
\Disease\Disorder of extremity\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of hand\Brachydactyly syndrome type E
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type E
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type E
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Brachydactyly syndrome type E
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type E
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia group\Brachydactyly syndrome type E
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\Brachydactyly syndrome type E
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type E
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type E
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Brachydactyly syndrome type E
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\Brachydactyly syndrome type E
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type E
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia group\Brachydactyly syndrome type E
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\Brachydactyly syndrome type E
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type E
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type E
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Brachydactyly syndrome type E

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

Descriptions:

Id Description Lang Type Status Case? Module

105893010 Brachydactyly syndrome type E en Synonym Active Only initial character case insensitive SNOMED CT core module
803025018 Brachydactyly syndrome type E (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachydactyly syndrome type E	Is a	Congenital skeletal dysplasia	false	Inferred relationship	Existential restriction modifier
Brachydactyly syndrome type E	Is a	Brachydactyly	true	Inferred relationship	Existential restriction modifier
Brachydactyly syndrome type E	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Brachydactyly syndrome type E	Associated morphology	Abnormally short growth	true	Inferred relationship	Existential restriction modifier	2
Brachydactyly syndrome type E	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier
Brachydactyly syndrome type E	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	2
Brachydactyly syndrome type E	Finding site	Musculoskeletal system structure of digit	false	Inferred relationship	Existential restriction modifier
Brachydactyly syndrome type E	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Brachydactyly syndrome type E	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Brachydactyly syndrome type E	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Brachydactyly syndrome type E	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	2
Brachydactyly syndrome type E	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier	2
Brachydactyly syndrome type E	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Brachydactyly syndrome type E	Is a	Acromesomelic dysplasia group	true	Inferred relationship	Existential restriction modifier
Brachydactyly syndrome type E	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Existential restriction modifier
Brachydactyly syndrome type E	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Brachydactyly syndrome type E	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Brachydactyly syndrome type E	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	2
Brachydactyly syndrome type E	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier	2
Brachydactyly syndrome type E	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Brachydactyly syndrome type E	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Brachydactyly syndrome type E	Is a	Finding of bone in hand	true	Inferred relationship	Existential restriction modifier
Brachydactyly syndrome type E	Is a	Congenital anomaly of hand	true	Inferred relationship	Existential restriction modifier
Brachydactyly syndrome type E	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Brachydactyly syndrome type E	Finding site	Bone structure of hand	false	Inferred relationship	Existential restriction modifier	3
Brachydactyly syndrome type E	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier	4
Brachydactyly syndrome type E	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	4
Brachydactyly syndrome type E	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Brachydactyly syndrome type E	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier	1
Brachydactyly syndrome type E	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Brachydactyly syndrome type E	Finding site	Entire digit	false	Inferred relationship	Existential restriction modifier	1
Brachydactyly syndrome type E	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Brachydactyly syndrome type E	Finding site	Entire digit	true	Inferred relationship	Existential restriction modifier	2
Brachydactyly syndrome type E	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Brachydactyly syndrome type E	Finding site	Bone structure of hand	true	Inferred relationship	Existential restriction modifier	1

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

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	Active	Only initial character case insensitive	SNOMED CT core module
803025018	Brachydactyly syndrome type E (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module