254059005: Kniest-Stickler 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-Stickler dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Kniest-Stickler dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Kniest-Stickler dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Kniest-Stickler dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Kniest-Stickler dysplasia

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Kniest-Stickler dysplasia
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Kniest-Stickler dysplasia
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Kniest-Stickler dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Kniest-Stickler dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Kniest-Stickler dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Kniest-Stickler dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Kniest-Stickler dysplasia
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Kniest-Stickler dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Kniest-Stickler dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Kniest-Stickler dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Kniest-Stickler dysplasia

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

Descriptions:

Id Description Lang Type Status Case? Module

378206010 Kniest-Stickler dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

644899013 Kniest-Stickler dysplasia (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

7299391000241114 dysplasie de Kniest-Stickler fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7299401000241112 collagénopathie de type II avec platyspondylie et retard d'ossification des épiphyses proximales fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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

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
378206010	Kniest-Stickler dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
644899013	Kniest-Stickler dysplasia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
7299391000241114	dysplasie de Kniest-Stickler	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7299401000241112	collagénopathie de type II avec platyspondylie et retard d'ossification des épiphyses proximales	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module