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 |
| 3728333012 | Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3728334018 | Intellectual disability, severe speech delay, mild dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 772351000241111 | syndrome de déficience intellectuelle-trouble sévère du langage-dysmorphie modérée (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 886961000172114 | syndrome de déficience intellectuelle-trouble sévère du langage-dysmorphie modérée | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 924621000172118 | syndrome FOXP1 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3728337013 | A rare genetic syndromic intellectual disability disorder with highly variable phenotype. Typical characteristics are mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly and behavioral problems that may include autistic features, hyperactivity and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, short bulbous nose with broad tip, thick vermilion border, wide and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated. Caused by heterozygous mutation in the FOXP1 gene on chromosome 3p13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3728338015 | A rare genetic syndromic intellectual disability disorder with highly variable phenotype. Typical characteristics are mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly and behavioural problems that may include autistic features, hyperactivity and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, short bulbous nose with broad tip, thick vermilion border, wide and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated. Caused by heterozygous mutation in the FOXP1 gene on chromosome 3p13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 1 | |
| Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) | est un(e) (attribut) | Global developmental delay | true | Inferred relationship | Some | ||
| Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR