733095006: Skeletal dysplasia brachydactyly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Skeletal dysplasia brachydactyly syndrome

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Skeletal dysplasia brachydactyly syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Skeletal dysplasia brachydactyly syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Skeletal dysplasia brachydactyly syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Skeletal dysplasia brachydactyly syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Skeletal dysplasia brachydactyly syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Skeletal dysplasia brachydactyly syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Skeletal dysplasia brachydactyly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Skeletal dysplasia brachydactyly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Skeletal dysplasia brachydactyly syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease\Skeletal dysplasia brachydactyly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Skeletal dysplasia brachydactyly syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Skeletal dysplasia brachydactyly syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Skeletal dysplasia brachydactyly 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\Skeletal dysplasia brachydactyly syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Skeletal dysplasia brachydactyly syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Skeletal dysplasia brachydactyly syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Skeletal dysplasia brachydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Skeletal dysplasia brachydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Skeletal dysplasia brachydactyly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Skeletal dysplasia brachydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Skeletal dysplasia brachydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Skeletal dysplasia brachydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Skeletal dysplasia brachydactyly 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

3498741012 Mononen Karnes Senac syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3498742017 Skeletal dysplasia brachydactyly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3498743010 Skeletal dysplasia brachydactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Skeletal dysplasia brachydactyly syndrome	Is a	Brachydactyly	true	Inferred relationship	Existential restriction modifier
Skeletal dysplasia brachydactyly syndrome	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Existential restriction modifier
Skeletal dysplasia brachydactyly syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Skeletal dysplasia brachydactyly syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Skeletal dysplasia brachydactyly syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Skeletal dysplasia brachydactyly syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier	2
Skeletal dysplasia brachydactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Skeletal dysplasia brachydactyly syndrome	Finding site	Entire digit	false	Inferred relationship	Existential restriction modifier	2
Skeletal dysplasia brachydactyly syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Skeletal dysplasia brachydactyly syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Skeletal dysplasia brachydactyly syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	3
Skeletal dysplasia brachydactyly syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Skeletal dysplasia brachydactyly syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	2
Skeletal dysplasia brachydactyly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Skeletal dysplasia brachydactyly syndrome	Associated morphology	Abnormally short growth	true	Inferred relationship	Existential restriction modifier	1
Skeletal dysplasia brachydactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Skeletal dysplasia brachydactyly syndrome	Finding site	Entire digit	true	Inferred relationship	Existential restriction modifier	1
Skeletal dysplasia brachydactyly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Skeletal dysplasia brachydactyly syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Skeletal dysplasia brachydactyly syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Skeletal dysplasia brachydactyly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Skeletal dysplasia brachydactyly syndrome	Is a	X-linked dominant hereditary disease	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498741012	Mononen Karnes Senac syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3498742017	Skeletal dysplasia brachydactyly syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3498743010	Skeletal dysplasia brachydactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module