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 |
| 1008961000172110 | syndrome de Bainbridge-Roppers | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3723393012 | Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723394018 | Bainbridge Roppers syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3723409015 | Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723410013 | Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 771331000241114 | syndrome de troubles sévères de l'alimentation-retard staturo-pondéral-microcéphalie par déficit en ASXL3 (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 956121000172115 | syndrome de troubles sévères de l'alimentation-retard staturo-pondéral-microcéphalie par déficit en ASXL3 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3723411012 | A rare genetic syndromic intellectual disability disorder with a variable phenotypic presentation. Typical characteristics are microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to profound intellectual disability, hypotonia and a distinctive facies that includes prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. Caused by heterozygous mutation in the ASXL3 gene on chromosome 18q12. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
| Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR