783551005: Ichthyosis, short stature, brachydactyly, microspherophakia syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Skin AND/OR mucosa finding\Skin finding\...
• \Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia 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, short stature, brachydactyly, microspherophakia 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, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Functional finding\Abnormal keratinization\...
• \Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia 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, short stature, brachydactyly, microspherophakia 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, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\Abnormal keratinization\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\Abnormal keratinization\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia 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, short stature, brachydactyly, microspherophakia 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, short stature, brachydactyly, microspherophakia 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, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia 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, short stature, brachydactyly, microspherophakia 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, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Microphakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Microspherophakia\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3759308018	Ichthyosis, short stature, brachydactyly, microspherophakia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3759309014	Ichthyosis, short stature, brachydactyly, microspherophakia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3759310016	15q26.3 microdeletion syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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