Autosomal recessive hereditary disorder	Congenital anomaly of skeletal bone	Congenital malformation of genital organs	Developmental hereditary disorder	Genetic intellectual disability	Hereditary disorder of musculoskeletal system	Multiple malformation syndrome with limb defect as major feature	Osteopenia	Reproductive system hereditary disorder	Short stature disorder
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Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
	Urban Rogers Meyer syndrome
	Prader Willi habitus with osteopenia and camptodactyly Intellectual disability and short stature with hand contracture and genital anomaly syndrome
	A rare syndromic intellectual disability characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.

Id	716334004
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Genital structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Has interpretation	Impaired
Interprets	Intellectual ability

Has interpretation	Impaired
Interprets	Adaptation behavior

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

Has interpretation	Below reference range
Interprets	Body height

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.8
Term	Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd

SNOMED CT to ICD-10 extended map

Target	Q87.2
Rule	TRUE
Advice	ALWAYS Q87.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified