299129008: Form of thumb (observable entity)

SNOMED CT Concept\Observable entity (observable entity)\...

\Feature of entity (observable entity)\Feature of anatomical entity (observable entity)\Feature of upper limb\Feature of hand region\Feature of digit of hand (observable entity)\Feature of thumb\Form of thumb

\Clinical history/examination observable (observable entity)\Body region observable\Limb structure observable\Feature of upper limb\Feature of hand region\Feature of digit of hand (observable entity)\Feature of thumb\Form of thumb

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

440001016 Form of thumb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

694652017 Form of thumb (observable entity) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Form of thumb	Is a	Feature of thumb	true	Inferred relationship	Some
Form of thumb	Finding site	Thumb structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Z deformity of thumb	Interprets	False	Form of thumb	Inferred relationship	Some
Broad thumbs	Interprets	False	Form of thumb	Inferred relationship	Some	1
Deformity of thumb	Interprets	False	Form of thumb	Inferred relationship	Some
Finding of form of thumb	Interprets	False	Form of thumb	Inferred relationship	Some	1
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.	Interprets	False	Form of thumb	Inferred relationship	Some	5
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.	Interprets	False	Form of thumb	Inferred relationship	Some	5

This concept is not in any reference sets