Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3321628015 | Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 3321629011 | Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3321630018 | CHIME syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 3321631019 | CHIME (coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, ear anomaly) syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 3321632014 | Neuroectodermal dysplasia CHIME type | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 3321633016 | Zunich Kaye syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Finding site | Face structure | false | Inferred relationship | Existential restriction modifier | 6 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Existential restriction modifier | 10 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Finding site | Structure of eye proper | false | Inferred relationship | Existential restriction modifier | 10 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Is a | Ectodermal dysplasia | true | Inferred relationship | Existential restriction modifier | ||
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Is a | Congenital heart disease | true | Inferred relationship | Existential restriction modifier | ||
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Is a | Mental retardation | false | Inferred relationship | Existential restriction modifier | ||
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Is a | Congenital ocular coloboma | true | Inferred relationship | Existential restriction modifier | ||
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Existential restriction modifier | ||
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Is a | Auditory system hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Is a | Hereditary disorder of the integument | true | Inferred relationship | Existential restriction modifier | ||
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Existential restriction modifier | ||
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Finding site | Ear structure | false | Inferred relationship | Existential restriction modifier | 6 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 6 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Existential restriction modifier | 7 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 7 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 8 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Existential restriction modifier | 9 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 9 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 10 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Existential restriction modifier | 6 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Finding site | Heart structure | false | Inferred relationship | Existential restriction modifier | 7 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Finding site | Skin structure | false | Inferred relationship | Existential restriction modifier | 9 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Associated morphology | Congenital dysplasia | false | Inferred relationship | Existential restriction modifier | 8 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Finding site | Ectoderm structure | false | Inferred relationship | Existential restriction modifier | 8 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Associated morphology | Developmental failure of fusion | true | Inferred relationship | Existential restriction modifier | 1 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Finding site | Structure of eye proper | true | Inferred relationship | Existential restriction modifier | 1 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 4 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Finding site | Skin structure | true | Inferred relationship | Existential restriction modifier | 5 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 5 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 5 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 4 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 3 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 4 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 5 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 3 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 4 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Finding site | Ectoderm structure | true | Inferred relationship | Existential restriction modifier | 3 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Associated morphology | Congenital dysplasia | false | Inferred relationship | Existential restriction modifier | 3 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Finding site | Heart structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Existential restriction modifier | 3 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Finding site | Structure of auditory system | true | Inferred relationship | Existential restriction modifier | 6 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Interprets | Hearing, function | true | Inferred relationship | Existential restriction modifier | 7 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Is a | Congenital hearing disorder | false | Inferred relationship | Existential restriction modifier | ||
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 8 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 8 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 9 | |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 9 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR