| syndroom van kleine gestalte, skeletdysplasie, retinadegeneratie, verstandelijke beperking en perceptief gehoorverlies (aandoening) | | syndroom van kleine gestalte, skeletdysplasie, retinadegeneratie, verstandelijke beperking en perceptief gehoorverlies | | syndroom van kleine gestalte, skeletdysplasie, retinadegeneratie, mentale retardatie en perceptief gehoorverlies
Linefarb-syndroom
syndroom van kleine lichaamslengte, skeletdysplasie, retinadegeneratie, verstandelijke handicap en perceptief gehoorverlies
| | Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome | | Liberfarb syndrome
| | A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. |
| | Id | 1284851009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 589442 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.5 | | Rule | TRUE | | Advice | ALWAYS Q87.5 | 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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