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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4635206014 Sterol-C4-methyl oxidase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4635208010 SMO (sterol-C4-methyl oxidase) deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4635211011 Microcephaly, congenital cataract, psoriasiform dermatitis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4635212016 Microcephaly, congenital cataract, psoriasiform dermatitis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399378017 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5399379013 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 Entire term case sensitive (core metadata concept) SNOMED CT core
4635206014 Sterol-C4-methyl oxidase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4635208010 SMO (sterol-C4-methyl oxidase) deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4635211011 Microcephaly, congenital cataract, psoriasiform dermatitis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4635212016 Microcephaly, congenital cataract, psoriasiform dermatitis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5399378017 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5399379013 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 Entire term case sensitive (core metadata concept) SNOMED CT core
516321000274112 SC4MOL-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3443361001000111 Mikrozephalie-kongenitale Katarakt-psoriasiforme Dermatose-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
516321000274112 SC4MOL-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3443361001000111 Mikrozephalie-kongenitale Katarakt-psoriasiforme Dermatose-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Is a Microcephaly (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Is a Disorder of cholesterol synthesis true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Is a Inborn error of lipoprotein metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Is a Psoriasiform dermatitis true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Is a Congenital cataract true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Interprets Head circumference true Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Finding site Structure of lens of eye (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Associated morphology Opacity true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Associated morphology Psoriasiform rash (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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