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718715007: Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3313311016 Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313312011 Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401827017 This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401828010 This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313311016 Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313311016 Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313312011 Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313312011 Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313313018 This syndrome has characteristics of the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. At least five cases have been described in the literature so far. Enlargement of the kidneys was also reported in some cases. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401827017 This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401828010 This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
1055961000195118 Acanthosis nigricans-Insulinresistenz-Muskelkrämpfe Akrenvergrösserung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
898541000172117 syndrome d'acanthosis nigricans-résistance à l'insuline-crampes-hypertrophie acrale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
898541000172117 syndrome d'acanthosis nigricans-résistance à l'insuline-crampes-hypertrophie acrale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1055961000195118 Acanthosis nigricans-Insulinresistenz-Muskelkrämpfe Akrenvergrösserung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3437031001000112 Acanthosis nigricans-Insulinresistenz-Muskelkrämpfe Akrenvergrößerung-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
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Is a Insulin receptor defect true Inferred relationship Existential restriction modifier (core metadata concept)
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Is a Acanthosis nigricans (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Finding site Integumentary system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Finding site Structure of endocrine system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Has definitional manifestation Abnormal keratinization false Inferred relationship Existential restriction modifier (core metadata concept)
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Finding site Structure of endocrine system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Finding site Integumentary system structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 3
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Interprets Keratinisation true Inferred relationship Existential restriction modifier (core metadata concept) 3
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Finding site Integumentary system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Finding site Structure of endocrine system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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