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25109007: Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Is a	Chondrodysplasia punctata	false	Inferred relationship	Some
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Is a	Congenital anomaly of limb	false	Inferred relationship	Some
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Is a	Osteochondrodysplasia syndrome	false	Inferred relationship	Some
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Is a	Congenital agammaglobulinemia	false	Inferred relationship	Some
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Is a	äkta dvärgväxt	false	Inferred relationship	Some
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Severity	Severe	false	Inferred relationship	Some
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Finding site	Bone structure	false	Inferred relationship	Some	2
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Occurrence	Congenital	false	Inferred relationship	Some
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Finding site	Limb structure	false	Inferred relationship	Some	3
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Associated morphology	kongenital anomali	false	Inferred relationship	Some	3
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Associated morphology	medfödd missbildning	false	Inferred relationship	Some	3
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Is a	Short stature disorder	false	Inferred relationship	Some
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Finding site	Bone structure	false	Inferred relationship	Some	1
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Associated morphology	medfödd missbildning	false	Inferred relationship	Some	2
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Finding site	Limb structure	false	Inferred relationship	Some	2
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Occurrence	Congenital	false	Inferred relationship	Some	3
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	3
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Occurrence	Congenital	false	Inferred relationship	Some	4
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Finding site	Bone structure	false	Inferred relationship	Some	4
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Finding site	Limb structure	false	Inferred relationship	Some	3
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	4
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Occurrence	Congenital	false	Inferred relationship	Some	1
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Occurrence	Congenital	false	Inferred relationship	Some	2
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	2
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Pathological process (attribute)	Abnormal immune process (qualifier value)	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
42094011	Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
482838012	Immunodeficiency with short-limbed stature	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
482839016	SCID - Severe combined immunodeficiency with short-limbed dwarfism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
482840019	Severe combined immunodeficiency with short-limbed dwarfism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
482841015	Lymphopenic agammaglobulinaemia - short-limbed dwarfism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
755389012	Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3849341000052113	lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)