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784006008: Spondylometaphyseal 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
3760993019 Spondylometaphyseal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3760994013 Spondylometaphyseal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3760999015 A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localization and severity of involvement of the affected metaphyses. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3761000016 A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localisation and severity of involvement of the affected metaphyses. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3760993019 Spondylometaphyseal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3760994013 Spondylometaphyseal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3760999015 A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localization and severity of involvement of the affected metaphyses. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3761000016 A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localisation and severity of involvement of the affected metaphyses. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

12 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spondylometaphyseal dysplasia Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondylometaphyseal dysplasia Is a Skeletal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondylometaphyseal dysplasia Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia Finding site Skeletal system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondylometaphyseal dysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondylometaphyseal dysplasia Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. Is a True Spondylometaphyseal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner. Is a True Spondylometaphyseal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia Schmidt type (disorder) Is a True Spondylometaphyseal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Hall Riggs syndrome Is a True Spondylometaphyseal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia Golden type (disorder) Is a True Spondylometaphyseal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia A4 type (disorder) Is a True Spondylometaphyseal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) Is a True Spondylometaphyseal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome Is a True Spondylometaphyseal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia - Sutcliffe type Is a True Spondylometaphyseal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Dysplasie, spondyloepimetaphysäre, Typ Czarny-Ratajczak Is a False Spondylometaphyseal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Axial spondylometaphyseal dysplasia (disorder) Is a True Spondylometaphyseal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Regressive spondylometaphyseal dysplasia (disorder) Is a True Spondylometaphyseal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia, corneal dystrophy syndrome Is a True Spondylometaphyseal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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