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

1455641000005111 Osteodysplasi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteokondrodysplasi	Is a	False	Osteodysplasi	Inferred relationship	Some
Osteodysplasi, uspecificeret	Is a	False	Osteodysplasi	Inferred relationship	Some
Anden osteodysplasi, ikke nærmere specificeret	Is a	False	Osteodysplasi	Inferred relationship	Some
Anden specificeret osteodysplasi	Is a	False	Osteodysplasi	Inferred relationship	Some
Osteodysplasi, ikke nærmere specificeret	Is a	False	Osteodysplasi	Inferred relationship	Some
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Is a	False	Osteodysplasi	Inferred relationship	Some
A severe form of otopalatodigital syndrome spectrum disorder with characteristics of 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. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected.	Is a	False	Osteodysplasi	Inferred relationship	Some
The mildest form of otopalatodigital syndrome spectrum disorder, characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression.	Is a	False	Osteodysplasi	Inferred relationship	Some
Otopalatodigital syndrome	Is a	False	Osteodysplasi	Inferred relationship	Some
A rare genetic dysostosis disorder with characteristics of craniofacial bone abnormalities (for example 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	Osteodysplasi	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)