Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4675711017 | Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4675712012 | Macrocephaly, intellectual disability, left ventricular non compaction syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4675713019 | A rare genetic syndromic intellectual disability with characteristics of motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4675714013 | A rare genetic syndromic intellectual disability with characteristics of motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behaviour. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | est un(e) (attribut) | Macrocephaly (finding) | true | Inferred relationship | Some | ||
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | est un(e) (attribut) | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | est un(e) (attribut) | Left ventricular myocardial noncompaction cardiomyopathy (disorder) | true | Inferred relationship | Some | ||
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of musculoskeletal system | true | Inferred relationship | Some | ||
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | est un(e) (attribut) | Disorder of skeletal system | true | Inferred relationship | Some | ||
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | localisation d'une constatation (attribut) | Structure of myocardium of left ventricle | true | Inferred relationship | Some | 4 | |
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | interprète (attribut) | Head circumference | true | Inferred relationship | Some | 3 | |
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | a pour interprétation (attribut) | au-dessus de l'étendue de référence | true | Inferred relationship | Some | 3 | |
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | localisation d'une constatation (attribut) | Skeletal system structure | true | Inferred relationship | Some | 1 | |
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 2 | |
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR