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FHIR Server FHIR Server 3.7.4-SNAPSHOT
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FHIR
© HL7.org
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Server Home |
FHIR Server FHIR Server 3.7.4-SNAPSHOT
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FHIR Version n/a
User: [n/a]
Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 314950010 | Arthrogryposis multiplex congenita | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 2752036018 | Arthrogryposis multiplex congenita (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5171544017 | Multiple congenital arthrogryposis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5171545016 | AMC - arthrogryposis multiplex congenita | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5171546015 | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 314950010 | Arthrogryposis multiplex congenita | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 314950010 | Arthrogryposis multiplex congenita | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 590762012 | Arthrogryposis multiplex congenita | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 2752036018 | Arthrogryposis multiplex congenita (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 2752036018 | Arthrogryposis multiplex congenita (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5171544017 | Multiple congenital arthrogryposis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5171545016 | AMC - arthrogryposis multiplex congenita | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5171546015 | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Is a | Arthrogryposis | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Interprets | Range of joint movement | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
| A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Has interpretation | Decreased | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
| A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Finding site | Structure of joint region | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Associated morphology | Contracture | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Finding site | Joint structure of multiple body sites (body structure) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
| A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Associated morphology | Contracture | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Adducted thumbs and arthrogryposis syndrome Christian type (disorder) | Is a | True | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Inferred relationship | Existential restriction modifier (core metadata concept) | |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) | Is a | True | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Inferred relationship | Existential restriction modifier (core metadata concept) | |
| Arthrogryposis hyperkeratosis syndrome lethal form | Is a | True | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Inferred relationship | Existential restriction modifier (core metadata concept) | |
| Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) | Is a | True | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Inferred relationship | Existential restriction modifier (core metadata concept) | |
| Pena-Shokeir syndrome type I (disorder) | Is a | True | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Inferred relationship | Existential restriction modifier (core metadata concept) | |
| Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) | Is a | True | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Inferred relationship | Existential restriction modifier (core metadata concept) | |
| A rare genetic lethal non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed. There is evidence this disease is caused by homozygous mutation in the CNTN1 gene on chromosome 12q12. | Is a | True | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Inferred relationship | Existential restriction modifier (core metadata concept) | |
| A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy. | Is a | True | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Inferred relationship | Existential restriction modifier (core metadata concept) | |
| Hypomyelination neuropathy arthrogryposis syndrome (disorder) | Is a | True | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Inferred relationship | Existential restriction modifier (core metadata concept) | |
| X-linked distal arthrogryposis multiplex congenita (disorder) | Is a | True | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Inferred relationship | Existential restriction modifier (core metadata concept) | |
| Intellectual disability, developmental delay, contracture syndrome | Is a | True | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Inferred relationship | Existential restriction modifier (core metadata concept) | |
| Marden Walker syndrome (disorder) | Is a | True | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Inferred relationship | Existential restriction modifier (core metadata concept) | |
| Kuskokwim syndrome | Is a | True | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Inferred relationship | Existential restriction modifier (core metadata concept) | |
| Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) | Is a | True | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Inferred relationship | Existential restriction modifier (core metadata concept) | |
| Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. | Is a | True | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Inferred relationship | Existential restriction modifier (core metadata concept) | |
| Prenatal-onset spinal muscular atrophy with congenital bone fractures | Is a | True | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Inferred relationship | Existential restriction modifier (core metadata concept) | |
| Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder) | Is a | True | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Inferred relationship | Existential restriction modifier (core metadata concept) | |
| Microphthalmia, microtia, fetal akinesia syndrome | Is a | True | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Inferred relationship | Existential restriction modifier (core metadata concept) | |
| Antenatal multi-minicore disease with arthrogryposis multiplex congenita | Is a | True | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Inferred relationship | Existential restriction modifier (core metadata concept) | |
| Congenital muscular dystrophy with arthrogryposis multiplex congenita | Is a | True | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Inferred relationship | Existential restriction modifier (core metadata concept) | |
| Distal arthrogryposis type 5D (disorder) | Is a | True | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Inferred relationship | Existential restriction modifier (core metadata concept) | |
| Congenital pontocerebellar hypoplasia type 12 | Is a | True | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Inferred relationship | Existential restriction modifier (core metadata concept) | |
| Alkuraya Kucinskas syndrome | Is a | True | A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. | Inferred relationship | Existential restriction modifier (core metadata concept) |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
Concept inactivation indicator attribute value reference set (foundation metadata concept)
SAME AS association reference set (foundation metadata concept)