783003009: Thoracomelic dysplasia (disorder)

Descriptions:

Id Description Lang Type Status Case? Module

3757097015 Thoracomelic dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757098013 Rivera Perez Salas syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3757099017 Thoracolimb dysplasia Rivera type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3757100013 Thoracomelic dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757101012 An extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. Acetabular spurs and phalangeal cone-shaped epiphyses are not present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
3757102017 An extremely rare primary bone dysplasia disorder characterised by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. Acetabular spurs and phalangeal cone-shaped epiphyses are not present and osseous manifestations tend to normalise with age. There have been no further descriptions in the literature since 1988. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5408405011 A rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present, and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5408406012 A rare primary bone dysplasia disorder characterised by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present, and osseous manifestations tend to normalise with age. There have been no further descriptions in the literature since 1988. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Thoracomelic dysplasia (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Thoracomelic dysplasia (disorder)	Is a	Short rib dysplasia	true	Inferred relationship	Some
Thoracomelic dysplasia (disorder)	Is a	Congenital anomaly of pelvic bones	false	Inferred relationship	Some
Thoracomelic dysplasia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Thoracomelic dysplasia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Thoracomelic dysplasia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Thoracomelic dysplasia (disorder)	Is a	Short stature disorder	true	Inferred relationship	Some
Thoracomelic dysplasia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Thoracomelic dysplasia (disorder)	Is a	Hypoplasia of lower limb	false	Inferred relationship	Some
Thoracomelic dysplasia (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Thoracomelic dysplasia (disorder)	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Thoracomelic dysplasia (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Thoracomelic dysplasia (disorder)	Finding site	Bone structure of pelvis	true	Inferred relationship	Some	2
Thoracomelic dysplasia (disorder)	Finding site	Bone structure of rib	true	Inferred relationship	Some	1
Thoracomelic dysplasia (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2
Thoracomelic dysplasia (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Thoracomelic dysplasia (disorder)	Interprets	Height / growth measure	false	Inferred relationship	Some	3
Thoracomelic dysplasia (disorder)	Is a	Congenital hypoplasia of bone of pelvis (disorder)	true	Inferred relationship	Some
Thoracomelic dysplasia (disorder)	Interprets	Body height (observable entity)	true	Inferred relationship	Some	3
Thoracomelic dysplasia (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	3

Inbound Relationships

Characteristic

Refinability

Reference Sets

Id	Description	Lang	Type	Status	Case?	Module
3757097015	Thoracomelic dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3757098013	Rivera Perez Salas syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757099017	Thoracolimb dysplasia Rivera type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3757100013	Thoracomelic dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3757101012	An extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. Acetabular spurs and phalangeal cone-shaped epiphyses are not present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757102017	An extremely rare primary bone dysplasia disorder characterised by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. Acetabular spurs and phalangeal cone-shaped epiphyses are not present and osseous manifestations tend to normalise with age. There have been no further descriptions in the literature since 1988.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5408405011	A rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present, and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5408406012	A rare primary bone dysplasia disorder characterised by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present, and osseous manifestations tend to normalise with age. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core