Autosomal recessive ichthyosis	Brachydactyly	Hereditary disorder of the visual system	Microspherophakia	Multiple malformation syndrome with limb defect as major feature	Short stature disorder
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Ichthyosis, short stature, brachydactyly, microspherophakia syndrome (disorder)
	Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
	15q26.3 microdeletion syndrome
	A rare syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia.
	syndroom van ichthyosis, kleine gestalte, brachydactylie en microsferofakie

Id	783551005
Status	Primitive

Has interpretation	Abnormal
Interprets	Keratinization

Associated morphology	Hyperkeratosis
Finding site	Entire skin
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Congenital smallness
Finding site	Lens clear
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	Congenital abnormal roundness
Finding site	Lens clear
Occurrence	Congenital
Pathological process	Pathological developmental process

Interprets

Height / growth measure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q93.5
Rule	TRUE
Advice	ALWAYS Q93.5
Correlation	SNOMED CT source code to target map code correlation not specified