720499004: Aplasia cutis with myopia syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Skin AND/OR mucosa finding\Skin finding\Disorder of skin\...
• \Aplasia of skin\Aplasia cutis congenita\Aplasia cutis with myopia syndrome
• \Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis with myopia syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Aplasia of skin\Aplasia cutis congenita\Aplasia cutis with myopia syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis with myopia syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Aplasia of skin\Aplasia cutis congenita\Aplasia cutis with myopia syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis with myopia syndrome
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system\Aplasia cutis with myopia syndrome
• \Disorder of vision\Disorder of refraction AND/OR accommodation\Disorder of refraction\Myopia\Severe myopia\Aplasia cutis with myopia syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Aplasia cutis with myopia syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Aplasia of skin\Aplasia cutis congenita\Aplasia cutis with myopia syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis with myopia syndrome
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis with myopia syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Aplasia of skin\Aplasia cutis congenita\Aplasia cutis with myopia syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis with myopia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Aplasia cutis with myopia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Aplasia cutis with myopia syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Aplasia cutis with myopia syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Aplasia cutis with myopia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Aplasia cutis with myopia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Aplasia cutis with myopia syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Aplasia cutis with myopia syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Aplasia of skin\Aplasia cutis congenita\Aplasia cutis with myopia syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis with myopia syndrome
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis with myopia syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Aplasia cutis with myopia syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of vision\Disorder of refraction AND/OR accommodation\Disorder of refraction\Myopia\Severe myopia\Aplasia cutis with myopia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Aplasia cutis with myopia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis with myopia syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Aplasia of skin\Aplasia cutis congenita\Aplasia cutis with myopia syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis with myopia syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Aplasia cutis with myopia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Aplasia cutis with myopia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis with myopia syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3321035010	Aplasia cutis with myopia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321036011	Aplasia cutis with myopia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3321037019	Gershoni Baruch Leibo syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3321038012	This syndrome has characteristics of the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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