721879006: Microphthalmia with linear skin defect syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Microphthalmia with linear skin defect syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Microphthalmia with linear skin defect syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Microphthalmia with linear skin defect syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Microphthalmia with linear skin defect syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Microphthalmia with linear skin defect syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Microphthalmia with linear skin defect syndrome
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Microphthalmia with linear skin defect syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Microphthalmia with linear skin defect syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Microphthalmia with linear skin defect syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Microphthalmia with linear skin defect syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microphthalmia with linear skin defect syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease\Microphthalmia with linear skin defect syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Microphthalmia with linear skin defect syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Microphthalmia with linear skin defect syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Microphthalmia with linear skin defect syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Microphthalmia with linear skin defect syndrome
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Microphthalmia with linear skin defect syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Microphthalmia with linear skin defect syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Microphthalmia with linear skin defect syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Microphthalmia with linear skin defect syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Microphthalmia with linear skin defect syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Microphthalmia with linear skin defect syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3326425013	Microphthalmia with linear skin defect syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3326426014	Microphthalmia with linear skin defect syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3326427017	Syndromic microphthalmia type 7	en	Synonym	Active	Case insensitive	SNOMED CT core
3326428010	MIDAS syndrome (microphthalmia, dermal aplasia, sclerocornea) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3326429019	MIDAS syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3326430012	Syndrome with characteristics of ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.	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

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