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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
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
7542571000172118 deficiëntie van sterol-C4-methyloxidase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
7542581000172115 syndroom van microcefalie, congenitaal cataract en psoriasiforme dermatitis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
7542591000172117 SMO-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)


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 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 (disorder) 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 Lens clear true Inferred relationship Some 1
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Associated morphology Opacity true Inferred relationship Some 1
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Pathological process (attribute) 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 rash 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 (morphologic abnormality) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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