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 |
| 3498156014 | Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498157017 | Richieri Costa Guion Almeida Ramos syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3498158010 | Microbrachycephaly, ptosis, cleft lip syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3499900017 | Syndrome with the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Is a | Congenital anomaly of skull | true | Inferred relationship | Some | ||
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Is a | Cleft lip | true | Inferred relationship | Some | ||
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Is a | Congenital ptosis (disorder) | true | Inferred relationship | Some | ||
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 4 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Finding site | Bone structure of cranium | false | Inferred relationship | Some | 4 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 6 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Finding site | Structure of internal part of mouth | false | Inferred relationship | Some | 6 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Finding site | Lip structure | false | Inferred relationship | Some | 7 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Associated morphology | Congenital prolapse | false | Inferred relationship | Some | 5 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Finding site | Upper eyelid structure | false | Inferred relationship | Some | 5 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 7 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Finding site | Upper eyelid structure | true | Inferred relationship | Some | 1 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Finding site | Bone structure of cranium | true | Inferred relationship | Some | 2 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Finding site | Lip structure | true | Inferred relationship | Some | 3 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Associated morphology | Prolapse (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Finding site | Bone structure of head | false | Inferred relationship | Some | 4 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR