Autosomal recessive hereditary disorder	Brachydactyly	Degeneration of retina	Developmental hereditary disorder	Dysostosis	Hereditary disorder of musculoskeletal system	Hereditary disorder of the visual system	Short stature disorder
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Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
	Brachydactyly, short stature, retinitis pigmentosa syndrome
	A rare genetic congenital limb malformation syndrome with characteristics of mild to severe short stature, brachydactyly and retinal degeneration (usually retinitis pigmentosa) associated with variable intellectual disability, developmental delay and craniofacial anomalies. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the CWC27 gene on chromosome 5q12.
	syndroom van brachydactylie, kleine gestalte en retinitis pigmentosa

Id	782914000
Status	Primitive

Associated morphology	Dysplasia
Finding site	Bone structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Abnormally short growth
Finding site	Digit structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Degenerative abnormality
Finding site	Retinal structure

Interprets

Height / growth measure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified