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1332134000: Maculopapular cutaneous mastocytosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-May 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5348984017 Maculopapular cutaneous mastocytosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5348985016 Maculopapular cutaneous mastocytosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5348986015 A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5348987012 A form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the pediatric population and the etiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5348984017 Maculopapular cutaneous mastocytosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5348985016 Maculopapular cutaneous mastocytosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5348986015 A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5348987012 A form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the pediatric population and the etiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Maculopapular cutaneous mastocytosis (disorder) Is a Cutaneous mastocytosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Maculopapular cutaneous mastocytosis (disorder) Clinical course Chronic (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Maculopapular cutaneous mastocytosis (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Maculopapular cutaneous mastocytosis (disorder) Finding site Mast cell true Inferred relationship Existential restriction modifier (core metadata concept) 1
Maculopapular cutaneous mastocytosis (disorder) Associated morphology Mast cell abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Maculopapular cutaneous mastocytosis (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Maculopapular cutaneous mastocytosis (disorder) Associated morphology Cutaneous mastocytosis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Maculopapular cutaneous mastocytosis (disorder) Is a Papule of skin true Inferred relationship Existential restriction modifier (core metadata concept)
Maculopapular cutaneous mastocytosis (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Maculopapular cutaneous mastocytosis (disorder) Associated morphology Maculopapule (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Inbound Relationships Type Active Source Characteristic Refinability Group
Telangiectasia macularis eruptiva perstans Is a True Maculopapular cutaneous mastocytosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

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

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