388981000: Congenital dystrophia brevicollis (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jun 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1463159012 Congenital dystrophia brevicollis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1483042010 Congenital dystrophia brevicollis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1493576014 Nielsen's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1493577017 Bonnevie-Ullrich and Klippel-Feil syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

369831000077112 brevicollis congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
brevicollis congénital	Is a	Autosomal hereditary disorder	false	Inferred relationship	Some
brevicollis congénital	Is a	Congenital disease	false	Inferred relationship	Some
brevicollis congénital	Occurrence	Congenital	false	Inferred relationship	Some
brevicollis congénital	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Some
brevicollis congénital	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
brevicollis congénital	Is a	Congenital anomaly of cervical vertebra	false	Inferred relationship	Some
brevicollis congénital	Occurrence	Congenital	false	Inferred relationship	Some	1
brevicollis congénital	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	1
brevicollis congénital	Finding site	Bone structure of cervical vertebra	false	Inferred relationship	Some	1
brevicollis congénital	Is a	Lesion of neck	false	Inferred relationship	Some
brevicollis congénital	Is a	Congenital fusion of spine	false	Inferred relationship	Some
brevicollis congénital	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
brevicollis congénital	Is a	Developmental hereditary disorder	false	Inferred relationship	Some
brevicollis congénital	Associated morphology	Fusion that has occurred in a structure that is not normally fused.	false	Inferred relationship	Some	1
brevicollis congénital	Is a	Lesion of vertebra (finding)	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)