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890191004: Brachymetatarsia of fourth metatarsal (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4009754016 Brachymetatarsia of fourth metatarsal en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4009755015 Brachymetatarsia of fourth metatarsal (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4009756019 Brachymetatarsia of 4th metatarsal en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5600021000241119 brachymétatarsie du quatrième métatarsien fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Brachymetatarsia of fourth metatarsal Is a Brachymetatarsia true Inferred relationship Some
Brachymetatarsia of fourth metatarsal Associated morphology Abnormally short growth (morphologic abnormality) true Inferred relationship Some 1
Brachymetatarsia of fourth metatarsal Occurrence Congenital true Inferred relationship Some 1
Brachymetatarsia of fourth metatarsal Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Brachymetatarsia of fourth metatarsal Finding site Entire fourth metatarsal true Inferred relationship Some 1
Brachymetatarsia of fourth metatarsal Is a Abnormally short fourth metatarsal (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, and dysmorphic craniofacial features (including microcephaly, hypertelorism, epicanthal folds, mild ptosis, strabismus, malar hypoplasia, short nose, depressed nasal bridge, full lips, small, low-set ears, and short neck). Craniosynostosis, generalized hypotonia, as well as asymmetry of the cerebral hemispheres and mild thinning of the corpus callosum on brain imaging have also been described. Is a True Brachymetatarsia of fourth metatarsal Inferred relationship Some

This concept is not in any reference sets

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