254140006: congenitale dysplasie van kraakbenige en fibreuze componenten van skelet (aandoening)

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

\Musculoskeletal finding\Cartilage finding\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton
\Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378313013 Disorganised development of cartilaginous and fibrous components of the skeleton en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

378314019 Disorganized development of cartilaginous and fibrous components of the skeleton en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

644990013 Disorganized development of cartilaginous and fibrous components of the skeleton (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

7746011000146111 congenitale dysplasie van kraakbenige en fibreuze componenten van skelet nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7746021000146118 congenitale dysplasie van kraakbenige en fibreuze componenten van skelet (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8084931000146111 aangeboren ongeorganiseerde ontwikkeling van kraakbenige en fibreuze componenten van skelet nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorganized development of cartilaginous and fibrous components of the skeleton	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Disorganized development of cartilaginous and fibrous components of the skeleton	Is a	Disorder of bone (disorder)	false	Inferred relationship	Some
Disorganized development of cartilaginous and fibrous components of the skeleton	Finding site	Bone structure	false	Inferred relationship	Some	1
Disorganized development of cartilaginous and fibrous components of the skeleton	Occurrence	Congenital	false	Inferred relationship	Some
Disorganized development of cartilaginous and fibrous components of the skeleton	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Disorganized development of cartilaginous and fibrous components of the skeleton	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Disorganized development of cartilaginous and fibrous components of the skeleton	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Disorganized development of cartilaginous and fibrous components of the skeleton	Finding site	Bone structure	false	Inferred relationship	Some	1
Disorganized development of cartilaginous and fibrous components of the skeleton	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Disorganized development of cartilaginous and fibrous components of the skeleton	Occurrence	Congenital	false	Inferred relationship	Some	2
Disorganized development of cartilaginous and fibrous components of the skeleton	Finding site	Bone structure	false	Inferred relationship	Some	2
Disorganized development of cartilaginous and fibrous components of the skeleton	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Disorganized development of cartilaginous and fibrous components of the skeleton	Occurrence	Congenital	true	Inferred relationship	Some	1
Disorganized development of cartilaginous and fibrous components of the skeleton	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Disorganized development of cartilaginous and fibrous components of the skeleton	Finding site	Cartilage structure (body structure)	true	Inferred relationship	Some	1
Disorganized development of cartilaginous and fibrous components of the skeleton	Is a	Congenital anomaly of cartilage	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dysplasia epiphysealis hemimelica (disorder)	Is a	True	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Metachondromatosis	Is a	False	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Dyschondroplasia	Is a	False	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Osteoglophonic dysplasia	Is a	True	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Fibrous dysplasia	Is a	False	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Enchondromatosis	Is a	True	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Hypoplastic chondrodystrophy	Is a	True	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Polyostotic fibrous dysplasia of bone	Is a	False	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Cherubism	Is a	False	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Chondrodystrophy malacia	Is a	False	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Multiple exostoses syndrome	Is a	False	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
chondrodystrophia hyperplastica (aandoening)	Is a	False	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
pseudochondroplasie	Is a	False	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Chondrodystophy NEC	Is a	False	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Genochondromatosis (disorder)	Is a	True	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Spondyloenchondromatosis (disorder)	Is a	True	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Multiple congenital exostosis	Is a	True	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Carpotarsal osteochondromatosis (disorder)	Is a	True	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Gnathodiaphyseal dysplasia syndrome (disorder)	Is a	True	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
multipele niet-ossificerende fibromen (aandoening)	Is a	False	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Upington disease	Is a	True	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Short stature Brussels type (disorder)	Is a	True	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
McCune Albright syndrome (disorder)	Is a	False	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some
Exostosis, anetoderma, brachydactyly type E syndrome (disorder)	Is a	True	Disorganized development of cartilaginous and fibrous components of the skeleton	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

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US English

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Id	Description	Lang	Type	Status	Case?	Module
378313013	Disorganised development of cartilaginous and fibrous components of the skeleton	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378314019	Disorganized development of cartilaginous and fibrous components of the skeleton	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644990013	Disorganized development of cartilaginous and fibrous components of the skeleton (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7746011000146111	congenitale dysplasie van kraakbenige en fibreuze componenten van skelet	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7746021000146118	congenitale dysplasie van kraakbenige en fibreuze componenten van skelet (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8084931000146111	aangeboren ongeorganiseerde ontwikkeling van kraakbenige en fibreuze componenten van skelet	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)