| syndroom van frontonasale dysplasie, alopecia en afwijkingen van geslachtsorgaan (aandoening) | | syndroom van frontonasale dysplasie, alopecia en afwijkingen van geslachtsorgaan | | syndroom van frontonasale dysplasie, alopecia en afwijkingen van genitaliën
| | Frontonasal dysplasia with alopecia and genital anomaly syndrome | | Frontonasal dysplasia with alopecia and genital abnomality
Craniofrontonasal dysplasia with alopecia and hypogonadism
ALX4 (human aristaless-like 4) related frontonasal dysplasia with alopecia and genital anomaly
| | 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. |
| | Id | 725029001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.0 | | Term | Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan |
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| SNOMED CT to Orphanet simple map | 228390 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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