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

Expanded Value Set

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

Inbound Relationships

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Active

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Characteristic

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Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)