| syndroom van lange gestalte, verstandelijke beperking en nierafwijking (aandoening) | | syndroom van lange gestalte, verstandelijke beperking en nierafwijking | | syndroom van lange gestalte, verstandelijke handicap en renale anomalie
syndroom van Thauvin-Robinet-Faivre
syndroom van lange gestalte, mentale retardatie en nierafwijking
Thauvin-Robinet-Faivre-syndroom
| | Tall stature, intellectual disability, renal anomalies syndrome | | Thauvin Robinet Faivre syndrome
| | A rare overgrowth syndrome associated with multiple congenital anomalies with characteristics of tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism. Biallelic loss of function variants in FIBP (11q13.1) are responsible for this phenotype. Transmission is autosomal recessive. |
| | Id | 1169359006 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 500095 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.3 | | Rule | TRUE | | Advice | ALWAYS Q87.3 | 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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