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763748007: Isolated congenital adermatoglyphia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3643622014 Isolated congenital adermatoglyphia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643623016 Congenital absence of fingerprints en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643624010 Isolated congenital adermatoglyphia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643626012 Immigration delay disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643625011 A rare genetic developmental defect during embryogenesis disorder with characteristics of the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. There is evidence the disorder is caused by heterozygous mutation in the SMARCAD1 gene on chromosome 4q22. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
891591000172118 absence congénitale d'empreintes digitales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1018031000172117 adermatoglyphie congénitale isolée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Isolated congenital adermatoglyphia Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Isolated congenital adermatoglyphia Is a Abnormal dermatoglyphic pattern (disorder) true Inferred relationship Some
Isolated congenital adermatoglyphia Is a Aplasia of skin false Inferred relationship Some
Isolated congenital adermatoglyphia Is a Hereditary disorder of the integument true Inferred relationship Some
Isolated congenital adermatoglyphia Is a Congenital absence false Inferred relationship Some
Isolated congenital adermatoglyphia Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 1
Isolated congenital adermatoglyphia Occurrence Congenital true Inferred relationship Some 1
Isolated congenital adermatoglyphia Finding site Entire dermatoglyphic patterns true Inferred relationship Some 1
Isolated congenital adermatoglyphia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Isolated congenital adermatoglyphia Is a Developmental hereditary disorder true Inferred relationship Some
Isolated congenital adermatoglyphia Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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