Developmental hereditary disorder	Hereditary disorder of nervous system	Hereditary palmoplantar keratoderma	Inherited disorder of keratinization	Intellectual disability	Rough skin of hands	Spastic paraplegia	Talipes cavus	X-linked recessive hereditary disease
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Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder)
	Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
	Fitzsimmons McLachlan Gilbert syndrome
	This syndrome has characteristics of intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition.
	syndroom van spastische paraplegie, verstandelijke beperking en palmoplantaire keratodermie
	syndroom van spastische paraplegie, mentale retardatie en palmoplantaire keratodermie syndroom van Fitzsimmons-McLachlan-Gilbert syndroom van spastische paraplegie, verstandelijke handicap en palmoplantaire keratodermie

Id	722209002
Status	Primitive

Finding site

Structure of central nervous system

Pathological process

Pathological developmental process

Associated morphology	Hyperkeratosis
Finding site	Skin structure of sole of foot

Associated morphology	Hyperkeratosis
Finding site	Skin structure of palmar area of hand

Has interpretation	Abnormal
Interprets	Keratinization

Associated morphology	Claw-shaped deformity
Finding site	Foot structure

Associated morphology	Deformity
Finding site	Ankle region structure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	G82.1
Rule	TRUE
Advice	ALWAYS G82.1
Correlation	SNOMED CT source code to target map code correlation not specified

Target	F79.9
Rule	TRUE
Advice	ALWAYS F79.9
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q82.8
Rule	TRUE
Advice	ALWAYS Q82.8
Correlation	SNOMED CT source code to target map code correlation not specified