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 |
| 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 | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 1 | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 1 | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 2 | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | survenue (attribut) | congénital | 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 | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | est un(e) (attribut) | microcéphalie | false | Inferred relationship | Some | ||
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | est un(e) (attribut) | Global developmental delay | true | Inferred relationship | Some | ||
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | est un(e) (attribut) | anomalie congénitale de l'encéphale | false | Inferred relationship | Some | ||
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 3 | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | interprète (attribut) | Birth head circumference | true | Inferred relationship | Some | 3 | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | localisation d'une constatation (attribut) | structure de la tête | true | Inferred relationship | Some | 1 | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | est un(e) (attribut) | Congenital microcephaly (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR