53974002: Kniest dysplasia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Kniest dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Kniest dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Kniest dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Kniest dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Kniest dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Kniest dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Kniest dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Kniest dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Kniest dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Kniest dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Kniest dysplasia
\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\Kniest dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Kniest dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Kniest dysplasia
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Kniest dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Kniest dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Kniest dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Kniest dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Kniest dysplasia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Kniest dysplasia	Is a	Kniest-Stickler dysplasia group	false	Inferred relationship	Some
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
Kniest dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Kniest dysplasia	Associated morphology	Congenital malformation	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	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Kniest dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Kniest dysplasia	Is a	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

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

This concept is not in any reference sets

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