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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | survenue (attribut) | congénital | 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) | morphologie associée (attribut) | Congenital absence | 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) | survenue (attribut) | congénital | 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) | localisation d'une constatation (attribut) | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | localisation d'une constatation (attribut) | 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) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 4 | |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | localisation d'une constatation (attribut) | crâne (structure corporelle) | true | Inferred relationship | Some | 2 | |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 2 | |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | est un(e) (attribut) | Congenital alopecia | true | Inferred relationship | Some | ||
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | morphologie associée (attribut) | Absence (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | est un(e) (attribut) | hypogonadisme | true | Inferred relationship | Some | ||
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | est un(e) (attribut) | Frontonasal dysplasia sequence | true | Inferred relationship | Some | ||
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | est un(e) (attribut) | Total congenital alopecia | false | Inferred relationship | Some | ||
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | est un(e) (attribut) | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of endocrine gonad (disorder) | true | Inferred relationship | Some | ||
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 5 | |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | localisation d'une constatation (attribut) | Gonadal endocrine structure | false | Inferred relationship | Some | 5 | |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 6 | |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | localisation d'une constatation (attribut) | crâne (structure corporelle) | false | Inferred relationship | Some | 6 | |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 7 | |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | localisation d'une constatation (attribut) | face | false | Inferred relationship | Some | 7 | |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | morphologie associée (attribut) | Congenital absence | false | Inferred relationship | Some | 4 | |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | false | Inferred relationship | Some | 4 | |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR