773553003: Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of sweating\Hypohidrosis\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome

\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of sweat gland\Hypohidrosis\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome

\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome

\General finding of soft tissue\Skin finding\Finding of sweating\Hypohidrosis\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of sweat gland\Hypohidrosis\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of sweat gland\Hypohidrosis\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome

\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome

\Functional finding\Decline in functional status\Hypohidrosis\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Functional finding\Finding of sweating\Hypohidrosis\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of sweat gland\Hypohidrosis\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Integumentary system finding\Skin finding\Finding of sweating\Hypohidrosis\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of sweat gland\Hypohidrosis\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of sweat gland\Hypohidrosis\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disease\Keratosis\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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\Hereditary diffuse palmoplantar keratoderma\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of sweat gland\Hypohidrosis\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3724060019 Shaheen syndrome en Synonym Active Case sensitive SNOMED CT core

3724061015 Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3724062010 Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3724063017 A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability with significant speech and language impairment, hypohidrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed. There is evidence the disease is caused by homozygous mutation in the COG6 gene on chromosome 13q14. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Has interpretation	Abnormal	false	Inferred relationship	Some	1
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Is a	Digestive system hereditary disorder	false	Inferred relationship	Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Is a	Hypohidrosis	true	Inferred relationship	Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Interprets	Keratinisation	false	Inferred relationship	Some	1
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Finding site	Sweat gland structure	true	Inferred relationship	Some	4
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Is a	Hereditary diffuse palmoplantar keratoderma	true	Inferred relationship	Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	3
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Is a	Enamel hypoplasia	true	Inferred relationship	Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Finding site	Enamel structure	true	Inferred relationship	Some	2
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Associated morphology	Hyperkeratosis	false	Inferred relationship	Some	6
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Finding site	Skin structure of palmar area of hand	false	Inferred relationship	Some	6
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Is a	Inherited disorder of keratinisation	false	Inferred relationship	Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Finding site	Skin structure of sole of foot	false	Inferred relationship	Some	3
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Is a	Keratosis	false	Inferred relationship	Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Is a	Rough skin	false	Inferred relationship	Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Finding site	Entire skin of palmar area of hand	true	Inferred relationship	Some	1
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Finding site	Entire skin of sole of foot	true	Inferred relationship	Some	3
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Interprets	Sweating	true	Inferred relationship	Some	6
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Has interpretation	Decreased	true	Inferred relationship	Some	6
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Is a	Hereditary disorder of tooth	true	Inferred relationship	Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	7
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	8
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	8

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
3724060019	Shaheen syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3724061015	Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3724062010	Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3724063017	A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability with significant speech and language impairment, hypohidrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed. There is evidence the disease is caused by homozygous mutation in the COG6 gene on chromosome 13q14.	en	Definition	Active	Case sensitive	SNOMED CT core