Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3649909010 | Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3649910017 | CHOPS syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3649911018 | Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3651508015 | Syndrome with characteristics of multiple congenital abnormalities, intellectual disability and delayed development of skills such as sitting and walking. Characteristic facial features include a round face, thick hair, synophrys, wide-set, bulging eyes with long eyelashes, a short nose and down-turned corners of the mouth. Patent ductus arteriosus is present in most cases. Obstructive sleep apnoea is a common feature. Cases are usually shorter than more than 97 percent of their peers and are overweight for their height. Other features include microcephaly, hearing loss, cataract, single horseshoe-shaped kidney and cryptorchidism. Caused by mutations in the AFF4 gene thought to result in excessive AFF4 protein, which interferes with normal pauses in transcription. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3651509011 | Syndrome with characteristics of multiple congenital abnormalities, intellectual disability and delayed development of skills such as sitting and walking. Characteristic facial features include a round face, thick hair, synophrys, wide-set, bulging eyes with long eyelashes, a short nose and down-turned corners of the mouth. Patent ductus arteriosus is present in most cases. Obstructive sleep apnea is a common feature. Cases are usually shorter than more than 97 percent of their peers and are overweight for their height. Other features include microcephaly, hearing loss, cataract, single horseshoe-shaped kidney and cryptorchidism. Caused by mutations in the AFF4 gene thought to result in excessive AFF4 protein, which interferes with normal pauses in transcription. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 1 | |
| Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR