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240059009: congenitale spierdystrofie (aandoening)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
congenitale spierdystrofie	Is a	Autosomal recessive muscular dystrophy with limb girdle distribution	false	Inferred relationship	Some
congenitale spierdystrofie	Is a	Congenital hereditary muscular dystrophy	false	Inferred relationship	Some
congenitale spierdystrofie	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
congenitale spierdystrofie	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
congenitale spierdystrofie	Occurrence	Congenital	false	Inferred relationship	Some
congenitale spierdystrofie	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
congenitale spierdystrofie	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
congenitale spierdystrofie	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
congenitale spierdystrofie	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
congenitale spierdystrofie	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
congenitale spierdystrofie	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
congenitale spierdystrofie	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
congenitale spierdystrofie	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
congenitale spierdystrofie	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
congenitale spierdystrofie	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
congenitale spierdystrofie	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
congenitale spierdystrofie	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
congenitale spierdystrofie	Occurrence	Congenital	false	Inferred relationship	Some	3
congenitale spierdystrofie	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
congenitale spierdystrofie	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	3
congenitale spierdystrofie	Occurrence	Congenital	false	Inferred relationship	Some	4
congenitale spierdystrofie	Associated morphology	Dystrophy	false	Inferred relationship	Some	4
congenitale spierdystrofie	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	4
congenitale spierdystrofie	Is a	Muscular dystrophy with predominantly proximal limb girdle distribution	false	Inferred relationship	Some
congenitale spierdystrofie	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
congenitale spierdystrofie	Occurrence	Congenital	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Western type of congenital muscular dystrophy	Is a	False	congenitale spierdystrofie	Inferred relationship	Some
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Is a	False	congenitale spierdystrofie	Inferred relationship	Some
Ullrich congenital muscular dystrophy	Is a	False	congenitale spierdystrofie	Inferred relationship	Some
Eichsfeld type congenital muscular dystrophy	Is a	False	congenitale spierdystrofie	Inferred relationship	Some
Walker-Warburg congenital muscular dystrophy	Is a	False	congenitale spierdystrofie	Inferred relationship	Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder)	Is a	False	congenitale spierdystrofie	Inferred relationship	Some
Congenital muscular dystrophy Paradas type (disorder)	Is a	False	congenitale spierdystrofie	Inferred relationship	Some
Congenital muscular dystrophy with hyperlaxity (disorder)	Is a	False	congenitale spierdystrofie	Inferred relationship	Some
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)	Is a	False	congenitale spierdystrofie	Inferred relationship	Some
Congenital muscular dystrophy type 1B	Is a	False	congenitale spierdystrofie	Inferred relationship	Some
Congenital muscular dystrophy due to lamin A/C mutation (disorder)	Is a	False	congenitale spierdystrofie	Inferred relationship	Some
Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder)	Is a	False	congenitale spierdystrofie	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

GB English

US English

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
359655015	Congenital muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
629150019	Congenital muscular dystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
377571000146111	congenitale spierdystrofie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
377581000146113	congenitale spierdystrofie (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)