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725417001: Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3442466019 Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3442467011 CHST3-related skeletal dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3442468018 Carbohydrate sulfotransferase 3 related skeletal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3442469014 Spondyloepiphyseal dysplasia with congenital joint dyslocations CHST3 type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5403467016 CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403468014 CHST3-related skeletal dysplasia is a very rare bone disorder characterised clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3442466019 Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3442467011 CHST3-related skeletal dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3442468018 Carbohydrate sulfotransferase 3 related skeletal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3442469014 Spondyloepiphyseal dysplasia with congenital joint dyslocations CHST3 type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3442470010 A very rare bone disorder with clinical characteristics of short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403467016 CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403468014 CHST3-related skeletal dysplasia is a very rare bone disorder characterised clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3431191001000117 CHST3-assoziierte Skelettdysplasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5488621000241111 dysplasie squelettique causée par la carbohydrate sulfotransférase 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5488621000241111 dysplasie squelettique causée par la carbohydrate sulfotransférase 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3431191001000117 CHST3-assoziierte Skelettdysplasie 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
CHST3-related skeletal dysplasia Is a Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
CHST3-related skeletal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
CHST3-related skeletal dysplasia Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
CHST3-related skeletal dysplasia Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
CHST3-related skeletal dysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
CHST3-related skeletal dysplasia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
CHST3-related skeletal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
CHST3-related skeletal dysplasia Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
CHST3-related skeletal dysplasia Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
CHST3-related skeletal dysplasia Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
CHST3-related skeletal dysplasia Associated morphology Dislocation true Inferred relationship Existential restriction modifier (core metadata concept) 2
CHST3-related skeletal dysplasia Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 3
CHST3-related skeletal dysplasia Due to Spontaneous event (event) true Inferred relationship Existential restriction modifier (core metadata concept) 4
CHST3-related skeletal dysplasia Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 5
CHST3-related skeletal dysplasia Associated morphology Damage false Inferred relationship Existential restriction modifier (core metadata concept) 6
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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