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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Deformity (finding)\Congenital deformity (disorder)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of limb structure (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of limb structure (finding)\Disorder of limb\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 (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \General finding of soft tissue\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\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 (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\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 (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Functional finding\Abnormal keratinization\...
• \Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\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 (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\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 (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Keratosis (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of limb\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of limb\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)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Developmental disorder (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 (disorder)\Congenital malformation\Congenital deformity (disorder)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Developmental disorder (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 (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3759308018	Ichthyosis, short stature, brachydactyly, microspherophakia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3759309014	Ichthyosis, short stature, brachydactyly, microspherophakia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3759310016	15q26.3 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3759311017	A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3759312012	A rare syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3759308018	Ichthyosis, short stature, brachydactyly, microspherophakia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3759309014	Ichthyosis, short stature, brachydactyly, microspherophakia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3759310016	15q26.3 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3759311017	A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3759312012	A rare syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
545911000274119	Mikrodeletionssyndrom 15q26.3	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3413631001000117	Ichthyose-Kleinwuchs-Brachydaktylie-Mikrosphärenphakie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6286831000241114	syndrome d'ichtyose, petite taille, brachydactylie et microsphérophakie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6286841000241116	syndrome de microdélétion 15q26.3	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6286831000241114	syndrome d'ichtyose, petite taille, brachydactylie et microsphérophakie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6286841000241116	syndrome de microdélétion 15q26.3	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
545911000274119	Mikrodeletionssyndrom 15q26.3	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3413631001000117	Ichthyose-Kleinwuchs-Brachydaktylie-Mikrosphärenphakie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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