722209002: Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Deformity of lower limb\Deformity of foot\Talipes\Talipes cavus\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome

\Skin AND/OR mucosa finding\Skin finding\...

\Rough skin\Rough skin of hands\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome

\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome

\Finding of limb structure\Deformity of limb\Deformity of lower limb\Deformity of foot\Talipes\Talipes cavus\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Disorder of extremity\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Disorder of extremity\Disorder of soft tissue of limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of ankle\Talipes\Talipes cavus\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Talipes\Talipes cavus\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Finding of lower limb\Deformity of lower limb\Deformity of foot\Talipes\Talipes cavus\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Deformity of foot\Talipes\Talipes cavus\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Disorder of foot\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Disorder of foot\Talipes\Talipes cavus\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of ankle region\Disorder of ankle\Talipes\Talipes cavus\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of ankle\Talipes\Talipes cavus\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Talipes\Talipes cavus\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Rough skin of hands\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome

\Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome

\General finding of soft tissue\Skin finding\Rough skin\Rough skin of hands\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome

\Central nervous system finding\Disorder of the central nervous system\Spastic syndrome\Spastic paraplegia\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Functional finding\Abnormal keratinisation\Rough skin\Rough skin of hands\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Functional finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Integumentary system finding\Skin finding\Rough skin\Rough skin of hands\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Integumentary system finding\Abnormal keratinisation\Rough skin\Rough skin of hands\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome

\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\...

\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome

\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome

\Disease\Disorder of joint region\Disorder of ankle\Talipes\Talipes cavus\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of body system\Neurological disorder\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spastic syndrome\Spastic paraplegia\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Keratosis\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of extremity\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of extremity\Disorder of soft tissue of limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of ankle\Talipes\Talipes cavus\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Talipes\Talipes cavus\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3331161015 Fitzsimmons McLachlan Gilbert syndrome en Synonym Active Case sensitive SNOMED CT core

3331163017 Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3331164011 Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome en Synonym Active Case insensitive SNOMED CT core

3331162010 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. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	3
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	2
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Finding site	Skin structure of palmar area of hand	true	Inferred relationship	Some	2
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Finding site	Skin structure of sole of foot	true	Inferred relationship	Some	3
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Is a	Talipes cavus	true	Inferred relationship	Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Is a	Rough skin of hands	true	Inferred relationship	Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Interprets	Keratinisation	true	Inferred relationship	Some	6
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	6
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Finding site	Foot structure	true	Inferred relationship	Some	1
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Associated morphology	Claw-shaped deformity	true	Inferred relationship	Some	1
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Finding site	Ankle region structure	true	Inferred relationship	Some	7
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Associated morphology	Deformity	true	Inferred relationship	Some	7
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Is a	Inherited disorder of keratinisation	true	Inferred relationship	Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	8
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	8
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Interprets	Adaptation behaviour	false	Inferred relationship	Some	9
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Has interpretation	Impaired	false	Inferred relationship	Some	9
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Interprets	Movement	true	Inferred relationship	Some	11
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Interprets	Movement observable	true	Inferred relationship	Some	10
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Has interpretation	Absent	true	Inferred relationship	Some	10
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Finding site	Structure of right lower limb	true	Inferred relationship	Some	9
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Finding site	Structure of left lower limb	true	Inferred relationship	Some	13
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	12
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	12
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Is a	Congenital paraplegia	false	Inferred relationship	Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Is a	Spastic paraplegia	true	Inferred relationship	Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Is a	Hereditary palmoplantar keratoderma	true	Inferred relationship	Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Finding site	Structure of central nervous system	true	Inferred relationship	Some	4
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Finding site	Structure of lower limb	false	Inferred relationship	Some	3
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Has definitional manifestation	Abnormal keratinisation	false	Inferred relationship	Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Finding site	Skin structure	false	Inferred relationship	Some	5
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Associated morphology	Hyperkeratosis	false	Inferred relationship	Some	6
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Finding site	Skin structure	false	Inferred relationship	Some	6
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Interprets	Keratinisation	false	Inferred relationship	Some	2
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	Has interpretation	Abnormal	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3331161015	Fitzsimmons McLachlan Gilbert syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3331163017	Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3331164011	Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3331162010	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.	en	Definition	Active	Case sensitive	SNOMED CT core