Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 1017091000172119 | syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3643494012 | Hypotonia, speech impairment, severe cognitive delay syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3643495013 | Hypotonia, speech impairment, severe cognitive delay syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3780952015 | IHPRF (infantile hypotonia, psychomotor retardation, characteristic facies) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 766441000241111 | syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3643496014 | A rare genetic neurodegenerative disorder with characteristics of severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère | est un(e) (attribut) | anomalie congénitale de l'encéphale | true | Inferred relationship | Some | ||
| syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère | est un(e) (attribut) | Congenital anomaly of nervous system of head/neck | false | Inferred relationship | Some | ||
| syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère | est un(e) (attribut) | Congenital degeneration of nervous system | true | Inferred relationship | Some | ||
| syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
| syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère | est un(e) (attribut) | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
| syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère | morphologie associée (attribut) | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère | est un(e) (attribut) | Degenerative brain disorder | true | Inferred relationship | Some | ||
| syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 2 | |
| syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 2 | |
| syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère | localisation d'une constatation (attribut) | structure du tissu encéphalique | true | Inferred relationship | Some | 1 | |
| syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère | morphologie associée (attribut) | dégénérescence | false | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR