62767009: mandibulofaciale dysostose (aandoening)

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

Descriptions:

Id Description Lang Type Status Case? Module

104313012 Franceschetti-Klein syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

104314018 Complete mandibulofacial dysostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

801975012 Franceschetti-Klein syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

6090311000146117 mandibulofaciale dysostose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6090321000146110 mandibulofaciale dysostose (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6090331000146112 syndroom van Franceschetti-Klein nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6090341000146116 dysostosis mandibulofacialis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6594341000146112 syndroom van Franceschetti nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6594351000146110 syndroom van Treacher-Collins nl Synonym (core metadata concept) Active Only initial character 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
mandibulofaciale dysostose	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
mandibulofaciale dysostose	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
mandibulofaciale dysostose	Is a	Treacher Collins syndrome	false	Inferred relationship	Some
mandibulofaciale dysostose	Finding site	Bone structure of head	false	Inferred relationship	Some	2
mandibulofaciale dysostose	Occurrence	Congenital	false	Inferred relationship	Some
mandibulofaciale dysostose	Associated morphology	Congenital malformation	false	Inferred relationship	Some
mandibulofaciale dysostose	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
mandibulofaciale dysostose	Occurrence	Congenital	false	Inferred relationship	Some	1
mandibulofaciale dysostose	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
mandibulofaciale dysostose	Finding site	Face structure	false	Inferred relationship	Some	1
mandibulofaciale dysostose	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
mandibulofaciale dysostose	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)