53974002: Kniest dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Kniest dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Kniest dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Kniest dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Kniest dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Kniest dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Kniest dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Kniest dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Kniest dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Kniest dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Kniest dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Kniest dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Kniest dysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Kniest dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Kniest dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Kniest dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Kniest dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Kniest dysplasia

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

792153011 Kniest dysplasia (disorder) en Fully specified name Active Case sensitive SNOMED CT core

89716016 Kniest dysplasia en Synonym Active Case sensitive SNOMED CT core

89717013 Kniest syndrome en Synonym Active Case sensitive SNOMED CT core

89718015 Kniest chondrodystrophy en Synonym Active Case sensitive SNOMED CT core

89719011 Swiss cheese cartilage dysplasia en Synonym Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Kniest dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Kniest dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Kniest dysplasia	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Kniest dysplasia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Kniest dysplasia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Kniest dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Kniest dysplasia	Is a	Osteochondrodysplasia syndrome	true	Inferred relationship	Some
Kniest dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Kniest dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Kniest dysplasia	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Kniest dysplasia	Is a	Kniest-Stickler dysplasia group	false	Inferred relationship	Some
Kniest dysplasia	Finding site	Bone structure	true	Inferred relationship	Some	1
Kniest dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Kniest dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Kniest dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Kniest dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Kniest dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Kniest dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Kniest dysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Kniest dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dyssegmental dysplasia with glaucoma syndrome	Is a	False	Kniest dysplasia	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
792153011	Kniest dysplasia (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
89716016	Kniest dysplasia	en	Synonym	Active	Case sensitive	SNOMED CT core
89717013	Kniest syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
89718015	Kniest chondrodystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
89719011	Swiss cheese cartilage dysplasia	en	Synonym	Active	Case sensitive	SNOMED CT core