Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3704569016 | Holoprosencephaly with caudal dysgenesis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3704570015 | Holoprosencephaly with caudal dysgenesis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3704571016 | A central nervous system malformation syndrome with characteristics of holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Is a | Caudal regression syndrome | false | Inferred relationship | Some | ||
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Is a | Holoprosencephaly sequence | true | Inferred relationship | Some | ||
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Finding site | Sacral spine structure | false | Inferred relationship | Some | 3 | |
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 2 | |
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Is a | Disorder of sacrum | true | Inferred relationship | Some | ||
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Is a | Congenital anomaly of lower trunk | false | Inferred relationship | Some | ||
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Is a | Skeletal dysplasia | false | Inferred relationship | Some | ||
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Is a | Sacral spine finding | false | Inferred relationship | Some | ||
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Is a | Congenital anomaly of lower limb (disorder) | false | Inferred relationship | Some | ||
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Is a | Congenital anomaly of musculoskeletal structure of trunk | false | Inferred relationship | Some | ||
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 3 | |
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Is a | Congenital anomaly of skeletal bone | false | Inferred relationship | Some | ||
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Is a | Congenital anomaly of body wall | false | Inferred relationship | Some | ||
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Is a | Congenital anomaly of the pelvis | true | Inferred relationship | Some | ||
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Finding site | Structure of sacral vertebral column region (body structure) | true | Inferred relationship | Some | 3 | |
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Is a | Congenital anomaly of spinal cord (disorder) | true | Inferred relationship | Some | ||
Holoprosencephaly with caudal dysgenesis syndrome (disorder) | Is a | Congenital dysplasia of limb (disorder) | false | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets