733416004: Exostosis, anetoderma, brachydactyly type E syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Cartilage finding\Cartilage disorder\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome
\Musculoskeletal finding\Cartilage finding\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Exostosis, anetoderma, brachydactyly type E syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Exostosis, anetoderma, brachydactyly type E syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder\Cartilage disorder\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Exostosis, anetoderma, brachydactyly type E syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Exostosis, anetoderma, brachydactyly type E syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder\Cartilage disorder\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
\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\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Disorder of connective tissue\Connective tissue hereditary disorder\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Cartilage disorder\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Congenital disease\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Exostosis, anetoderma, brachydactyly type E syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3499394011 Exostosis, anetoderma, brachydactyly type E syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3499395012 Exostosis, anetoderma, brachydactyly type E syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

3633708016 Exostosis, anetodermia, brachydactyly type E syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Exostosis, anetoderma, brachydactyly type E syndrome	Is a	Disorganized development of cartilaginous and fibrous components of the skeleton	true	Inferred relationship	Existential restriction modifier
Exostosis, anetoderma, brachydactyly type E syndrome	Is a	Connective tissue hereditary disorder	true	Inferred relationship	Existential restriction modifier
Exostosis, anetoderma, brachydactyly type E syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Exostosis, anetoderma, brachydactyly type E syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Exostosis, anetoderma, brachydactyly type E syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Exostosis, anetoderma, brachydactyly type E syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Exostosis, anetoderma, brachydactyly type E syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Exostosis, anetoderma, brachydactyly type E syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Exostosis, anetoderma, brachydactyly type E syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Exostosis, anetoderma, brachydactyly type E syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Exostosis, anetoderma, brachydactyly type E syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Exostosis, anetoderma, brachydactyly type E syndrome	Finding site	Cartilage structure	true	Inferred relationship	Existential restriction modifier	2
Exostosis, anetoderma, brachydactyly type E syndrome	Is a	Osteochondropathy	true	Inferred relationship	Existential restriction modifier
Exostosis, anetoderma, brachydactyly type E syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Exostosis, anetoderma, brachydactyly type E syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Exostosis, anetoderma, brachydactyly type E syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Exostosis, anetoderma, brachydactyly type E syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets