62767009: Franceschetti-Klein syndrome (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

104313012 Franceschetti-Klein syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

104314018 Complete mandibulofacial dysostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

801975012 Franceschetti-Klein syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

1457441000005119 Franceschetti-Kleins syndrom da Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Franceschetti-Kleins syndrom	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
Franceschetti-Kleins syndrom	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Franceschetti-Kleins syndrom	Is a	A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner.	false	Inferred relationship	Some
Franceschetti-Kleins syndrom	Finding site	Bone structure of head	false	Inferred relationship	Some	2
Franceschetti-Kleins syndrom	Occurrence	Congenital	false	Inferred relationship	Some
Franceschetti-Kleins syndrom	Associated morphology	Kongenit malformation	false	Inferred relationship	Some
Franceschetti-Kleins syndrom	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Some
Franceschetti-Kleins syndrom	Occurrence	Congenital	false	Inferred relationship	Some	1
Franceschetti-Kleins syndrom	Associated morphology	dysgenese	false	Inferred relationship	Some	1
Franceschetti-Kleins syndrom	Finding site	Face structure	false	Inferred relationship	Some	1
Franceschetti-Kleins syndrom	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Franceschetti-Kleins syndrom	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1

Inbound Relationships

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Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)