Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3315232012 | Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3315233019 | Spondyloepimetaphyseal dysplasia matrilin-3 type | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 753671000241116 | dysplasie spondylo-épimétaphysaire type matrilin-3 (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 887981000172116 | SEMD type MATN3 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 993771000172118 | dysplasie spondylo-épimétaphysaire type matrilin-3 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3315234013 | Disease that has characteristics of disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. The syndrome has been described in a large consanguineous Arab Muslim family. It is caused by mutation in the matrilin-3 gene (MATN3, 2p24-p23) and transmitted in an autosomal recessive manner. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 1 | |
| Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
| Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 2 | |
| Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) | est un(e) (attribut) | Spondyloepimetaphyseal disorder | true | Inferred relationship | Some | ||
| Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
| Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 2 | |
| Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) | localisation d'une constatation (attribut) | structure osseuse | false | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR