205490002: Osteodysplasia (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

315109012 Osteodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

590864016 Osteodysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteodysplasia	Is a	Congenital skeletal dysplasia (disorder)	false	Inferred relationship	Some
Osteodysplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Osteodysplasia	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Osteodysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Osteodysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Osteodysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Osteodysplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Osteodysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Osteodysplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Osteodysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Osteodysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Osteodysplasia	Occurrence	Congenital	false	Inferred relationship	Some	1
Osteodysplasia	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteochondrodysplasia	Is a	False	Osteodysplasia	Inferred relationship	Some
Osteodysplasia, unspecified	Is a	False	Osteodysplasia	Inferred relationship	Some
Other osteodysplasia NOS	Is a	False	Osteodysplasia	Inferred relationship	Some
Other specified osteodysplasia	Is a	False	Osteodysplasia	Inferred relationship	Some
Osteodysplasia NOS	Is a	False	Osteodysplasia	Inferred relationship	Some
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Is a	False	Osteodysplasia	Inferred relationship	Some
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.	Is a	False	Osteodysplasia	Inferred relationship	Some
A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.	Is a	False	Osteodysplasia	Inferred relationship	Some
Otopalatodigital syndrome	Is a	False	Osteodysplasia	Inferred relationship	Some
Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.	Is a	False	Osteodysplasia	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)