719299009: Pelviscapular dysplasia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pelviscapular dysplasia syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pelviscapular dysplasia syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pelviscapular dysplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pelviscapular dysplasia syndrome

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Pelviscapular dysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pelviscapular dysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pelviscapular dysplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Pelviscapular dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Pelviscapular dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Pelviscapular dysplasia 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\Dysostosis\Pelviscapular dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Pelviscapular dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Pelviscapular dysplasia syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pelviscapular dysplasia syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pelviscapular dysplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pelviscapular dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pelviscapular dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pelviscapular dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pelviscapular dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Pelviscapular dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Pelviscapular dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pelviscapular dysplasia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Pelviscapular dysplasia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Pelviscapular dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pelviscapular dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pelviscapular dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pelviscapular dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Pelviscapular dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Pelviscapular dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pelviscapular dysplasia syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3315905012 Pelviscapular dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

3315906013 Cousin syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3315907016 Familial pelvis-scapular dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

3315909018 Pelviscapular dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3315910011 Pelviscapular dysplasia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pelviscapular dysplasia syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Pelviscapular dysplasia syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Pelviscapular dysplasia syndrome	Is a	Dysostosis	true	Inferred relationship	Existential restriction modifier
Pelviscapular dysplasia syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Pelviscapular dysplasia syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Pelviscapular dysplasia syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Pelviscapular dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Pelviscapular dysplasia syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Pelviscapular dysplasia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Pelviscapular dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Pelviscapular dysplasia syndrome	Finding site	Bone structure of extremity	false	Inferred relationship	Existential restriction modifier	3
Pelviscapular dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Pelviscapular dysplasia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Pelviscapular dysplasia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Pelviscapular dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Pelviscapular dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Pelviscapular dysplasia syndrome	Finding site	Bone structure of extremity	true	Inferred relationship	Existential restriction modifier	1
Pelviscapular dysplasia syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Pelviscapular dysplasia 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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3315905012	Pelviscapular dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3315906013	Cousin syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3315907016	Familial pelvis-scapular dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3315909018	Pelviscapular dysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3315910011	Pelviscapular dysplasia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module