Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3724064011 | THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3724065012 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3724066013 | Beaulieu Boycott Innes syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3724067016 | THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3724068014 | BBIS - Beaulieu Boycott Innes syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6743351000146116 | syndroom van THOC6-gerelateerde ontwikkelingsachterstand, microcefalie en faciale dysmorfie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6743361000146118 | syndroom van THOC6-gerelateerde ontwikkelingsachterstand, microcefalie en faciale dysmorfie (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6743371000146112 | syndroom van Beaulieu-Boycott-Innes | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6956301000146117 | BBIS | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3724069018 | A rare genetic syndromic intellectual disability disorder with characteristics of global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus) and corpus callosum dysplasia may be associated. The disease is caused by homozygous mutation in the THOC6 gene on chromosome 16p13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Associated morphology | congenitale kleinheid | false | Inferred relationship | Some | 1 | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Finding site | Brain structure | false | Inferred relationship | Some | 1 | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Is a | microcefalie | false | Inferred relationship | Some | ||
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Interprets | Birth head circumference | true | Inferred relationship | Some | 3 | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Finding site | Head structure | true | Inferred relationship | Some | 1 | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR