763404001: Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Rough skin\Congenital ichthyosis of skin\...

\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome

\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome

\Hair finding\Disorder of hair\...

\Congenital anomaly of hair\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome

\Alopecia\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome

\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome

\General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, 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 hair\Congenital anomaly of hair\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, 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 hair\Alopecia\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Functional finding\Abnormal keratinisation\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Functional finding\Abnormal keratinisation\Rough skin\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Functional finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Functional finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, 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 hair\Congenital anomaly of hair\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, 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 hair\Alopecia\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Abnormal keratinisation\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Abnormal keratinisation\Rough skin\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, 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 hair\Congenital anomaly of hair\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, 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 hair\Alopecia\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3639338017 Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3639339013 Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3640466015 Jagell, Holmgren, Hofer syndrome en Synonym Active Case sensitive SNOMED CT core

3640801016 An ectodermal dysplasia syndrome characterised by severe generalised lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. en Definition Active Case sensitive SNOMED CT core

3640802011 An ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Associated morphology	Proliferative hyperkeratosis	true	Inferred relationship	Some	3
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Is a	Autosomal recessive ichthyosis	true	Inferred relationship	Some
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	4
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Interprets	Keratinisation	true	Inferred relationship	Some	4
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Finding site	Entire skin	true	Inferred relationship	Some	3
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Associated morphology	Absence	true	Inferred relationship	Some	1
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	5
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Is a	Congenital alopecia	true	Inferred relationship	Some
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Is a	Ectodermal dysplasia	true	Inferred relationship	Some
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Is a	Lamellar ichthyosis	true	Inferred relationship	Some
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Occurrence	Infancy	false	Inferred relationship	Some
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Occurrence	Fetal or neonatal period	false	Inferred relationship	Some
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Finding site	Skin structure	false	Inferred relationship	Some	4
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Finding site	Hair structure	true	Inferred relationship	Some	1
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Associated morphology	Hyperkeratosis	false	Inferred relationship	Some	4
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	2
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Finding site	Ectoderm structure	false	Inferred relationship	Some	3
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Associated morphology	Developmental abnormality	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
3639338017	Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3639339013	Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3640466015	Jagell, Holmgren, Hofer syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3640801016	An ectodermal dysplasia syndrome characterised by severe generalised lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.	en	Definition	Active	Case sensitive	SNOMED CT core
3640802011	An ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.	en	Definition	Active	Case sensitive	SNOMED CT core