725104005: Cheirospondyloenchondromatosis (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3438596018 Cheirospondyloenchondromatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3438597010 Cheirospondyloenchondromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3438598017 Generalized enchondromatosis with platyspondyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3438599013 Generalised enchondromatosis with platyspondyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3438600011 An extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) with characteristics of symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cheirospondyloenchondromatosis	Is a	Enchondromatosis	false	Inferred relationship	Some
Cheirospondyloenchondromatosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Cheirospondyloenchondromatosis	Occurrence	Congenital	false	Inferred relationship	Some	2
Cheirospondyloenchondromatosis	Finding site	Bone structure	false	Inferred relationship	Some	2
Cheirospondyloenchondromatosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Cheirospondyloenchondromatosis	Finding site	Bone structure	false	Inferred relationship	Some	1
Cheirospondyloenchondromatosis	Occurrence	Congenital	false	Inferred relationship	Some	1
Cheirospondyloenchondromatosis	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Cheirospondyloenchondromatosis	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Cheirospondyloenchondromatosis	Finding site	Cartilage structure (body structure)	false	Inferred relationship	Some	2
Cheirospondyloenchondromatosis	Associated morphology	Dysplasia	false	Inferred relationship	Some	2
Cheirospondyloenchondromatosis	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)