| syndroom van faciale dysmorfie, anorexie, cachexie en afwijkingen van oog en huid (aandoening) | | syndroom van faciale dysmorfie, anorexie, cachexie en afwijkingen van oog en huid | | syndroom van congenitale afwijking van aangezicht, anorexie, cachexie en afwijkingen van oog en huid
FACES-syndroom
| | Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome | | Friedman Goodman syndrome
FACES (facial dysmorphism, anorexia, cachexia, eye and skin anomalies) syndrome
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of facial dysmorphism (mild eyelid ptosis, xanthelasma, anteverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and cafe-au-lait spots, as well as mild soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There has been no further description in the literature since 1984. |
| | Id | 782949007 | | 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 | 1969 |
| 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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