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

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Deformity (finding)\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos de la structure d'un membre\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation générale à propos des tissus mous\Skin finding\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation fonctionnelle\Abnormal keratinisation\...
• \Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\Skin finding\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\Abnormal keratinisation\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\kératose\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\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 (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\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 (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\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 (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\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 (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Microphakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Microspherophakia (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\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

Expanded Value Set

This concept is not in any reference sets

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