1172683008: Microcephaly, congenital cataract, psoriasiform dermatitis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Rash\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Inflammatory dermatosis\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Rash\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Inflammatory dermatosis\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Rash\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Rash\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Inflammatory dermatosis\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Rash\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome

\Finding of head and neck region\Head finding\...

\Finding of head circumference\Microcephaly\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Inflammatory dermatosis\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Rash\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Inflammatory dermatosis\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Rash\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inborn error of lipoprotein metabolism\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Rash\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Inflammatory dermatosis\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Rash\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Inflammatory dermatosis\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inborn error of lipoprotein metabolism\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipid metabolism disorder\Disorder of cholesterol metabolism\Disorder of cholesterol synthesis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Disorder of cholesterol synthesis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Inborn error of lipoprotein metabolism\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Congenital disease\Inborn error of metabolism\Inborn error of lipoprotein metabolism\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Rash\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Inflammatory dermatosis\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Rash\Psoriasiform dermatitis\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Microcephaly, congenital cataract, psoriasiform dermatitis syndrome

Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4635206014 Sterol-C4-methyl oxidase deficiency en Synonym Active Initial character case insensitive SNOMED CT core

4635208010 SMO (sterol-C4-methyl oxidase) deficiency en Synonym Active Case sensitive SNOMED CT core

4635211011 Microcephaly, congenital cataract, psoriasiform dermatitis syndrome en Synonym Active Case insensitive SNOMED CT core

4635212016 Microcephaly, congenital cataract, psoriasiform dermatitis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4635209019 A rare sterol biosynthesis disorder characterised by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity and immune dysregulation. Behavioural disorder, joint contractures and arthralgia have also been described. en Definition Active Case sensitive SNOMED CT core

4635210012 A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity and immune dysregulation. Behavioral disorder, joint contractures and arthralgia have also been described. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Is a	Microcephaly	true	Inferred relationship	Some
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Is a	Disorder of cholesterol synthesis	true	Inferred relationship	Some
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Is a	Inborn error of lipoprotein metabolism	true	Inferred relationship	Some
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Is a	Psoriasiform dermatitis	true	Inferred relationship	Some
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Is a	Congenital cataract	true	Inferred relationship	Some
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Interprets	Head circumference	true	Inferred relationship	Some	4
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	1
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Associated morphology	Abnormally opaque structure	true	Inferred relationship	Some	1
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Associated morphology	Psoriasiform eruption	true	Inferred relationship	Some	2
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Finding site	Skin structure	true	Inferred relationship	Some	3
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Associated morphology	Inflammatory morphology	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4635206014	Sterol-C4-methyl oxidase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4635208010	SMO (sterol-C4-methyl oxidase) deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
4635211011	Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4635212016	Microcephaly, congenital cataract, psoriasiform dermatitis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4635209019	A rare sterol biosynthesis disorder characterised by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity and immune dysregulation. Behavioural disorder, joint contractures and arthralgia have also been described.	en	Definition	Active	Case sensitive	SNOMED CT core
4635210012	A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity and immune dysregulation. Behavioral disorder, joint contractures and arthralgia have also been described.	en	Definition	Active	Case sensitive	SNOMED CT core