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\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly syndrome type E

\Finding of limb structure\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly syndrome type E
\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
\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
\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
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Brachydactyly syndrome type E
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly syndrome type E
\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
\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
\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 limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Brachydactyly syndrome type E
\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
\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 (disorder)\Congenital anomaly of hand (disorder)\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)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type E
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type E
\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
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type E
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type E

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

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

Expanded Value Set

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

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

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