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 |
| 3755249010 | A partial autosomal monosomy with characteristics of a variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3755245016 | Non-distal deletion 12q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3755246015 | Non-distal monosomy 12q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3755247012 | Non-telomeric monosomy 12q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3755248019 | Non-distal monosomy 12q (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A partial autosomal monosomy with characteristics of a variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions. | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| A partial autosomal monosomy with characteristics of a variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions. | Finding site | Chromosome pair 12 (cell structure) | true | Inferred relationship | Some | 1 | |
| A partial autosomal monosomy with characteristics of a variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions. | Associated morphology | Deletion of long arm | false | Inferred relationship | Some | 2 | |
| A partial autosomal monosomy with characteristics of a variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions. | Is a | Deletion of part of long arm of chromosome 12 (disorder) | true | Inferred relationship | Some | ||
| A partial autosomal monosomy with characteristics of a variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| A partial autosomal monosomy with characteristics of a variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| A partial autosomal monosomy with characteristics of a variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions. | Finding site | Chromosome pair 12 (cell structure) | false | Inferred relationship | Some | 2 | |
| A partial autosomal monosomy with characteristics of a variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions. | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| A partial autosomal monosomy with characteristics of a variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| A partial autosomal monosomy with characteristics of a variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions. | Finding site | Long arm of chromosome | true | Inferred relationship | Some | 2 | |
| A partial autosomal monosomy with characteristics of a variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions. | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| A partial autosomal monosomy with characteristics of a variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR