Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3437017017 | Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3437018010 | Frontonasal dysplasia with alopecia and genital anomaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3437020013 | Craniofrontonasal dysplasia with alopecia and hypogonadism | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3437021012 | Frontonasal dysplasia with alopecia and genital abnomality | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3780964011 | ALX4 (human aristaless-like 4) related frontonasal dysplasia with alopecia and genital anomaly | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3437022017 | A phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism. Four cases have been described in two families. The frontonasal dysplasia includes coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip. Affected individuals have mild to moderate intellectual deficit. A homozygous nonsense mutation in the human aristaless-like 4 (ALX4, 11p11.2) gene was identified in both families. The condition is transmitted as an autosomal recessive trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3991121000052118 | syndrom med frontonasal dysplasi, alopeci och missbildning av könsorgan | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Is a | Hypogonadism | true | Inferred relationship | Some | ||
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Is a | Frontonasal dysplasia sequence | true | Inferred relationship | Some | ||
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Is a | medfödd total alopeci | false | Inferred relationship | Some | ||
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Is a | Congenital anomaly of endocrine gonad (disorder) | true | Inferred relationship | Some | ||
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 5 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Finding site | Gonadal endocrine structure | false | Inferred relationship | Some | 5 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 6 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Finding site | Bone structure of cranium | false | Inferred relationship | Some | 6 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 7 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 7 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Finding site | Hair structure (body structure) | false | Inferred relationship | Some | 4 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 4 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 3 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Finding site | Bone structure of cranium | true | Inferred relationship | Some | 2 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 2 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Is a | Congenital alopecia | true | Inferred relationship | Some | ||
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets