773553003: syndroom van hypohidrose, hypoplasie van tandglazuur, keratosis palmoplantaris en verstandelijke beperking (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

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

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

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

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

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)

\Finding of limb structure\Disorder of limb (disorder)\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of soft tissue of limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of soft tissue of upper limb\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)
\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 (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of soft tissue of upper limb\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)

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

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3724060019 Shaheen syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3724061015 Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3724062010 Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6720131000146116 syndroom van hypohidrose, hypoplasie van tandglazuur, keratosis palmoplantaris en mentale retardatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6941131000146117 syndroom van Shaheen nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7495221000146117 syndroom van hypohidrose, hypoplasie van tandglazuur, keratosis palmoplantaris en verstandelijke beperking (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7717761000146118 syndroom van hypohidrose, hypoplasie van tandglazuur, keratosis palmoplantaris en verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7858691000146110 syndroom van hypohidrose, hypoplasie van tandglazuur, keratosis palmoplantaris en verstandelijke handicap nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3724060019	Shaheen syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724061015	Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724062010	Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6720131000146116	syndroom van hypohidrose, hypoplasie van tandglazuur, keratosis palmoplantaris en mentale retardatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6941131000146117	syndroom van Shaheen	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7495221000146117	syndroom van hypohidrose, hypoplasie van tandglazuur, keratosis palmoplantaris en verstandelijke beperking (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7717761000146118	syndroom van hypohidrose, hypoplasie van tandglazuur, keratosis palmoplantaris en verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7858691000146110	syndroom van hypohidrose, hypoplasie van tandglazuur, keratosis palmoplantaris en verstandelijke handicap	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core