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783003009: Thoracomelic dysplasia (disorder)

Status: current, 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
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 Active 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 Active Entire term case sensitive (core metadata concept) SNOMED CT core
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 Active 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 Active Entire term case sensitive (core metadata concept) SNOMED CT core
3412261001000116 Dysplasie, thorakomelische de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5591101000241112 dysplasie thoracomélique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5591101000241112 dysplasie thoracomélique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3412261001000116 Dysplasie, thorakomelische de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Thoracomelic dysplasia Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Thoracomelic dysplasia Is a Short rib dysplasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Thoracomelic dysplasia Is a Congenital anomaly of pelvic bones true Inferred relationship Existential restriction modifier (core metadata concept)
Thoracomelic dysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Thoracomelic dysplasia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Thoracomelic dysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Thoracomelic dysplasia Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Thoracomelic dysplasia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Thoracomelic dysplasia Is a Hypoplasia of lower limb false Inferred relationship Existential restriction modifier (core metadata concept)
Thoracomelic dysplasia Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Thoracomelic dysplasia Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Thoracomelic dysplasia Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Thoracomelic dysplasia Finding site Structure of innominate bone and/or sacrum and/or coccyx (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Thoracomelic dysplasia Finding site Bone structure of rib true Inferred relationship Existential restriction modifier (core metadata concept) 1
Thoracomelic dysplasia Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Thoracomelic dysplasia Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Thoracomelic dysplasia Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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