| syndroom van plat aangezicht, microstomie en ooranomalie (aandoening) | | syndroom van plat aangezicht, microstomie en ooranomalie | | syndroom van Simosa-Penchaszadeh-Bustos
syndroom van plat gelaat, microstomie en ooranomalie
craniofaciaal syndroom van Simosa
syndroom van blefarofimose, telecanthus en microstomie
| | Flat face, microstomia, ear anomaly syndrome | | Blepharophimosis, telecanthus, microstomia syndrome
Simosa craniofacial syndrome
Simosa Penchaszadeh Bustos syndrome
| | Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994. |
| | Id | 773750003 | | 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 | 1968 |
| 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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