75654009: benigne autosomaal dominante osteopetrose (aandoening)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

125655011 Benign autosomal dominant osteopetrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

816288011 Benign autosomal dominant osteopetrosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6220731000146112 benigne autosomaal dominante osteopetrose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6220741000146116 benigne autosomaal dominante osteopetrose (aandoening) nl Fully specified name 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
benigne autosomaal dominante osteopetrose	Is a	Osteopetrosis	false	Inferred relationship	Some
benigne autosomaal dominante osteopetrose	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
benigne autosomaal dominante osteopetrose	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
benigne autosomaal dominante osteopetrose	Occurrence	Congenital	false	Inferred relationship	Some
benigne autosomaal dominante osteopetrose	Finding site	Bone structure	false	Inferred relationship	Some	1
benigne autosomaal dominante osteopetrose	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
benigne autosomaal dominante osteopetrose	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
benigne autosomaal dominante osteopetrose	Finding site	Bone structure	false	Inferred relationship	Some	1
benigne autosomaal dominante osteopetrose	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
benigne autosomaal dominante osteopetrose	Occurrence	Congenital	false	Inferred relationship	Some	2
benigne autosomaal dominante osteopetrose	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
benigne autosomaal dominante osteopetrose	Finding site	Bone structure	false	Inferred relationship	Some	2
benigne autosomaal dominante osteopetrose	Occurrence	Congenital	false	Inferred relationship	Some	1
benigne autosomaal dominante osteopetrose	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
benigne autosomaal dominante osteopetrose	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
benigne autosomaal dominante osteopetrose	Has interpretation	Below reference range	false	Inferred relationship	Some	2
benigne autosomaal dominante osteopetrose	Interprets	Osteoclast turnover rate	false	Inferred relationship	Some	2
benigne autosomaal dominante osteopetrose	Clinical course	Progressive (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)