Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5013861019 | PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5013862014 | PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5013863016 | Pleckstrin homology domain interacting protein-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5013864010 | Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5013865011 | Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5013866012 | Chung Jansen syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5013896019 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5013897011 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of variable developmental delay and intellectual disability, overweight or obesity, behavioural abnormalities (including hyperactivity, aggressive behaviour, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome | est un(e) (attribut) | Obesity (disorder) | true | Inferred relationship | Some | ||
| PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome | interprète (attribut) | mesure du poids corporel | true | Inferred relationship | Some | 2 | |
| PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome | a pour interprétation (attribut) | au-dessus de l'étendue de référence | true | Inferred relationship | Some | 2 | |
| PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 1 | |
| PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR