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763748007: adermatoglyphie congénitale isolée (trouble)


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
1018031000172117 adermatoglyphie congénitale isolée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
766491000241117 adermatoglyphie congénitale isolée (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
891591000172118 absence congénitale d'empreintes digitales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
adermatoglyphie congénitale isolée Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
adermatoglyphie congénitale isolée est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
adermatoglyphie congénitale isolée morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 1
adermatoglyphie congénitale isolée est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
adermatoglyphie congénitale isolée est un(e) (attribut) Abnormal dermatoglyphic pattern true Inferred relationship Some
adermatoglyphie congénitale isolée est un(e) (attribut) Aplasia of skin false Inferred relationship Some
adermatoglyphie congénitale isolée est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
adermatoglyphie congénitale isolée est un(e) (attribut) Congenital absence false Inferred relationship Some
adermatoglyphie congénitale isolée morphologie associée (attribut) Congenital absence false Inferred relationship Some 1
adermatoglyphie congénitale isolée survenue (attribut) congénital true Inferred relationship Some 1
adermatoglyphie congénitale isolée localisation d'une constatation (attribut) Entire dermatoglyphic patterns true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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