Anetoderma	Congenital anomaly of skeletal bone	Congenital anomaly of skin	Connective tissue hereditary disorder	Developmental hereditary disorder	Disorganized development of cartilaginous and fibrous components of the skeleton	Hereditary disorder of musculoskeletal system	Hereditary disorder of the integument	Lesion of bone	Osteochondropathy
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Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
	Exostosis, anetoderma, brachydactyly type E syndrome
	Exostosis, anetodermia, brachydactyly type E syndrome
	An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.

Id	733416004
Status	Primitive

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

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

Associated morphology	Focal atrophy with macular pattern
Finding site	Skin structure
Occurrence	Congenital
Pathological process	Pathological developmental process

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.5
Term	Overige congenitale gestoorde-ontwikkelingssyndromen met overige skeletveranderingen

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