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723995003: Schimke immuno-osseous 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
3428408016 Schimke immuno-osseous dysplasia (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3428409012 Schimke immuno-osseous dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3428410019 Schimke immunoosseous dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3428411015 Schimke syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403187012 A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403188019 A rare a multisystem disorder characterised by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3428408016 Schimke immuno-osseous dysplasia (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3428409012 Schimke immuno-osseous dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3428410019 Schimke immunoosseous dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3428411015 Schimke syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3428412010 A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome. Caused by mutations in the SMARCAL1 gene (2q35), which encodes the chromatin remodeling protein hHARP (also known as the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1). An autosomal recessive disorder. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3428413017 A multisystem disorder characterised by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome. Caused by mutations in the SMARCAL1 gene (2q35), which encodes the chromatin remodelling protein hHARP (also known as the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1). An autosomal recessive disorder. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403187012 A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403188019 A rare a multisystem disorder characterised by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424761001000113 Knochendysplasie, immuno-ossäre, Typ Schimke de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
905571000172111 syndrome de Schimke fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
970811000172119 dysplasie immuno-osseuse de Schimke fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
905571000172111 syndrome de Schimke fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
970811000172119 dysplasie immuno-osseuse de Schimke fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3424761001000113 Knochendysplasie, immuno-ossäre, Typ Schimke 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
Schimke immuno-osseous dysplasia Is a Glomerulonephritis true Inferred relationship Existential restriction modifier (core metadata concept)
Schimke immuno-osseous dysplasia Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Schimke immuno-osseous dysplasia Is a Immuno-osseous dysplasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Schimke immuno-osseous dysplasia Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Schimke immuno-osseous dysplasia Is a Hereditary disorder of immune system true Inferred relationship Existential restriction modifier (core metadata concept)
Schimke immuno-osseous dysplasia Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Schimke immuno-osseous dysplasia Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Schimke immuno-osseous dysplasia Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier (core metadata concept)
Schimke immuno-osseous dysplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Schimke immuno-osseous dysplasia Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Schimke immuno-osseous dysplasia Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Schimke immuno-osseous dysplasia Associated morphology inflammation false Inferred relationship Existential restriction modifier (core metadata concept) 5
Schimke immuno-osseous dysplasia Finding site Glomerulus structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Schimke immuno-osseous dysplasia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Schimke immuno-osseous dysplasia Finding site Glomerulus structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Schimke immuno-osseous dysplasia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Schimke immuno-osseous dysplasia Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Schimke immuno-osseous dysplasia Associated morphology inflammation false Inferred relationship Existential restriction modifier (core metadata concept) 2
Schimke immuno-osseous dysplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Schimke immuno-osseous dysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Schimke immuno-osseous dysplasia Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Schimke immuno-osseous dysplasia Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Schimke immuno-osseous dysplasia Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Schimke immuno-osseous dysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Schimke immuno-osseous dysplasia Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Schimke immuno-osseous dysplasia Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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