249773003: Broad thumbs (finding)

SNOMED CT Concept\Clinical finding (finding)\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand (finding)\Finding of thumb\Broad thumbs

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

372618018 Broad thumbs en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

640240011 Broad thumbs (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5762891000241117 pouce large fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5762901000241116 premier doigt de la main large fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5762911000241119 doigt I de la main large fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Broad thumbs	Is a	Finding of form of thumb	false	Inferred relationship	Some
Broad thumbs	Interprets	Form of thumb	false	Inferred relationship	Some	1
Broad thumbs	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some
Broad thumbs	Finding site	Thumb structure	true	Inferred relationship	Some	1
Broad thumbs	Is a	Finding of thumb	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.	Is a	True	Broad thumbs	Inferred relationship	Some
Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.	Is a	True	Broad thumbs	Inferred relationship	Some

This concept is not in any reference sets