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 |
| 3443211011 | Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3443212016 | Microcephalic osteodysplastic primordial dwarfism types I and III | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3443213014 | Microcephalic osteodysplastic primordial dwarfism Taybi Linder type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3443214015 | Primordial microcephalic dwarfism Crachami type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3443215019 | Taybi Linder syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 761221000241112 | nanisme microcéphalique ostéodysplasique primordial types I et III (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 968821000172119 | nanisme microcéphalique ostéodysplasique primordial types I et III | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 980071000172110 | MOPD (microcephalic osteodysplastic primordial dwarfism) types I et III | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3443216018 | Disease with characteristics of intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome. Although the causative gene remains unknown, homozygosity mapping has allowed identification of a candidate gene region on chromosome 2q (2q14.2-q14.3). Histological studies suggest that MOPD types 1 and 3 result from a basic defect in cell proliferation and tissue differentiation. Transmitted as autosomal recessive trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 1 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 3 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 4 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | localisation d'une constatation (attribut) | structure de la tête | true | Inferred relationship | Some | 2 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | interprète (attribut) | Birth head circumference | true | Inferred relationship | Some | 4 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | est un(e) (attribut) | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 3 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | est un(e) (attribut) | microcéphalie | false | Inferred relationship | Some | ||
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | est un(e) (attribut) | anomalie congénitale de l'encéphale | false | Inferred relationship | Some | ||
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | est un(e) (attribut) | Osteodysplastic primordial dwarfism | true | Inferred relationship | Some | ||
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 2 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 2 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | localisation d'une constatation (attribut) | structure osseuse | false | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR