Auditory system hereditary disorder	Autosomal recessive hereditary disorder	Brachycephaly	Congenital abnormality of skull shape	Congenital deformity	Congenital musculoskeletal deformity	Developmental hereditary disorder	Hearing loss associated with syndrome	Hereditary disorder of musculoskeletal system	Intellectual disability	Multiple malformation syndrome with facial defects as major feature
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Fine Lubinsky syndrome (disorder)
	Fine Lubinsky syndrome
	Brachycephaly, deafness, cataract, intellectual disability syndrome
	Syndrome with characteristics of psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies. Less than 10 patients have been described in the literature so far. Although the majority of reported cases were sporadic, the syndrome has been reported in one pair of siblings (a brother and sister) with an apparently autosomal recessive inheritance pattern.
	syndroom van brachycefalie, doofheid, cataract en verstandelijke beperking
	syndroom van Fine-Lubinsky syndroom van brachycefalie, doofheid, cataract en verstandelijke handicap syndroom van Aymé-Gripp syndroom van brachycefalie, doofheid, cataract en mentale retardatie

Id	720955004
Status	Primitive

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

Associated morphology	Deformity
Finding site	Bone structure of cranium
Occurrence	Congenital
Pathological process	Pathological developmental process

Finding site

Structure of auditory system

Interprets

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