Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3304354012 | A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Nine cases have been reported in the literature so far. Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant. It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait. Prognosis is poor, the syndrome is almost always lethal soon after birth. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3304355013 | A very rare syndrome characterised by poorly mineralised calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Nine cases have been reported in the literature so far. Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant. It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait. Prognosis is poor, the syndrome is almost always lethal soon after birth. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401196017 | Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401197014 | Crane-Heise syndrome is a very rare syndrome characterised by poorly mineralised calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3304348011 | Crane Heise syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3304349015 | Crane Heise syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Is a | Congenital anomaly of skeletal bone | false | Inferred relationship | Some | ||
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Is a | Congenital anomaly of spine | true | Inferred relationship | Some | ||
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Is a | Absence of clavicle | false | Inferred relationship | Some | ||
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Associated morphology | dysgenese | false | Inferred relationship | Some | 3 | |
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Associated morphology | Aplasia | false | Inferred relationship | Some | 4 | |
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Finding site | Bone structure of clavicle | false | Inferred relationship | Some | 4 | |
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Associated morphology | dysgenese | false | Inferred relationship | Some | 5 | |
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Finding site | Structure of vertebral column (body structure) | false | Inferred relationship | Some | 5 | |
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Is a | Congenital anomaly of bone of shoulder girdle (disorder) | false | Inferred relationship | Some | ||
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 3 | |
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Finding site | Structure of vertebral column (body structure) | true | Inferred relationship | Some | 1 | |
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Finding site | Bone structure of clavicle | true | Inferred relationship | Some | 2 | |
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Associated morphology | Aplasia | true | Inferred relationship | Some | 2 | |
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Is a | Disorder of vertebral column (disorder) | true | Inferred relationship | Some | ||
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Is a | Congenital absence of part of upper limb | false | Inferred relationship | Some | ||
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Is a | Congenital absence of skeletal bone | false | Inferred relationship | Some | ||
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Is a | Congenital anomaly of body wall | false | Inferred relationship | Some | ||
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Is a | Congenital anomaly of thorax | false | Inferred relationship | Some | ||
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. | Is a | Aplasia of clavicle | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)