Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3724064011 | THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
3724065012 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
3724066013 | Beaulieu Boycott Innes syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
3724067016 | THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive | SNOMED CT core module |
3724068014 | BBIS - Beaulieu Boycott Innes syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Associated morphology | Congenital smallness | true | Inferred relationship | Existential restriction modifier | 1 | |
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Finding site | Brain structure | false | Inferred relationship | Existential restriction modifier | 1 | |
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 2 | |
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Existential restriction modifier | ||
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Is a | Microcephalus | false | Inferred relationship | Existential restriction modifier | ||
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Is a | Global developmental delay | true | Inferred relationship | Existential restriction modifier | ||
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 2 | |
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Is a | Congenital anomaly of brain | false | Inferred relationship | Existential restriction modifier | ||
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Has interpretation | Below reference range | true | Inferred relationship | Existential restriction modifier | 3 | |
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Interprets | Birth head circumference | true | Inferred relationship | Existential restriction modifier | 3 | |
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Finding site | Head structure | true | Inferred relationship | Existential restriction modifier | 1 | |
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Is a | Congenital microcephaly | true | Inferred relationship | Existential restriction modifier | ||
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 4 | |
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 4 | |
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 5 | |
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets