205465004: chondrodysplasie (aandoening)

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

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Chondrodysplasia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)
\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\Chondrodysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Chondrodysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)

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
Chondrodysplasia (disorder)	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Chondrodysplasia (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Chondrodysplasia (disorder)	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Chondrodysplasia (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Chondrodysplasia (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Chondrodysplasia (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Chondrodysplasia (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Chondrodysplasia (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Chondrodysplasia (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Chondrodysplasia (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Chondrodysplasia (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Chondrodysplasia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Chondrodysplasia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Chondrodysplasia (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Lethal retarded ossification syndromes	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Some
Multiple exostosis syndromes	Is a	False	Chondrodysplasia (disorder)	Inferred relationship	Some
Chondrodysplasia, unspecified	Is a	False	Chondrodysplasia (disorder)	Inferred relationship	Some
Dyschondroplasia NOS	Is a	False	Chondrodysplasia (disorder)	Inferred relationship	Some
Lethal chondrodysplasia with fragmented bone (disorder)	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Some
Brachydactylous dwarfism Mseleni type	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Some
Lethal recessive chondrodysplasia (disorder)	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Some
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder)	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder)	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Some
Chondrodysplasia with disorder of sex development syndrome (disorder)	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Some
Bone dysplasia lethal Holmgren type (disorder)	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Some
Chondrodysplasia with joint dislocations gPAPP type (disorder)	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Some
Fibrochondrogenesis	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Some
Achondroplasia	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Some
QRICH1-related intellectual disability, chondrodysplasia syndrome	Is a	True	Chondrodysplasia (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
315050019	Chondrodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
590835013	Chondrodysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
9345261000146116	chondrodysplasie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9345271000146110	chondrodysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)