| syndroom van craniofaciale dysplasie, kleine gestalte, ectodermale afwijkingen en verstandelijke beperking (aandoening) | | syndroom van craniofaciale dysplasie, kleine gestalte, ectodermale afwijkingen en verstandelijke beperking | | syndroom van craniofaciale dysplasie, dwerggroei, ectodermale afwijkingen en mentale retardatie
syndroom van craniofaciale dysplasie, dwerggroei, ectodermale afwijkingen en verstandelijke handicap
| | Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | | Loucks Innes syndrome
Developmental delay, short stature, dysmorphic features, sparse hair syndrome
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypoplastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement. |
| | Id | 1217229007 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 459061 |
| 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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