| tot vrouwen beperkt X-gebonden syndroom van faciale dysmorfie, korte gestalte, choanale atresie en verstandelijke beperking (aandoening) | | tot vrouwen beperkt X-gebonden syndroom van faciale dysmorfie, korte gestalte, choanale atresie en verstandelijke beperking | | tot vrouwen beperkt X-gebonden syndroom van faciale dysmorfie, korte gestalte, choanale atresie en mentale retardatie
tot vrouwen beperkt X-gebonden syndroom van faciale dysmorfie, korte gestalte, choanenatresie en verstandelijke handicap
| | X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability | | X-linked facial dysmorphism, short stature, choanal atresia, intellectual disability syndrome limited to females
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, and dysmorphic facial features (such as facial asymmetry, prominent forehead, short palpebral fissures, low nasal bridge, smooth and long philtrum, thin upper lip, and low-set, posteriorly rotated, dysplastic ears), exclusively affecting females. Additional reported manifestations include short stature, choanal atresia, scoliosis, congenital ocular, dental, cardiac, and urogenital anomalies, as well as hypotonia, seizures, and structural brain abnormalities, among others. |
| | Id | 1172697000 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 480880 |
| 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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