Autosomal recessive hereditary disorder	Congenital oculocutaneous hypopigmentation	Developmental hereditary disorder	Dysplasia with decreased bone density	Genetic disorder of skin pigmentation	Hereditary disorder of musculoskeletal system	Hereditary disorder of the visual system
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Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
	Osteoporosis and oculocutaneous hypopigmentation syndrome
	Hernandez Fragoso syndrome
	Syndrome with characteristics of osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive.
	syndroom van osteoporose en oculocutane hypopigmentatie
	syndroom van Hernández-Fragoso

Id	722113001
Status	Primitive

Associated morphology	Hypopigmentation
Finding site	Eye structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Hypopigmentation
Finding site	Skin structure
Occurrence	Congenital
Pathological process	Pathological developmental process

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

Has interpretation	Below reference range
Interprets	Bone density scan

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q79.8
Rule	TRUE
Advice	ALWAYS Q79.8
Correlation	SNOMED CT source code to target map code correlation not specified

Target	L81.9
Rule	TRUE
Advice	ALWAYS L81.9
Correlation	SNOMED CT source code to target map code correlation not specified