725292008: Paraplegia, brachydactyly, cone-shaped epiphysis syndrome (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3440838014 Paraplegia, brachydactyly, cone-shaped epiphysis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3440839018 Paraplegia, brachydactyly, cone-shaped epiphysis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3440840016 Fitzsimmons Guilbert syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3440841017 This syndrome has characteristics of slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3440838014 Paraplegia, brachydactyly, cone-shaped epiphysis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3440839018 Paraplegia, brachydactyly, cone-shaped epiphysis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3440840016 Fitzsimmons Guilbert syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3440841017 This syndrome has characteristics of slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Is a	Brachydactyly syndrome type E	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Is a	retard mental	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Is a	Congenital paraplegia (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Is a	Spastic paraplegia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Is a	Disorder of epiphysis	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Finding site	Structure of central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Finding site	Lower limb structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Finding site	Bone structure of hand (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Finding site	Entire digit	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Associated morphology	Congenital abnormal shape	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Finding site	Structure of epiphysis	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Is a	Intelligenzminderung	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Finding site	Bone structure of hand (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Finding site	Structure of epiphysis	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Associated morphology	Congenital abnormal shape	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Finding site	Entire digit	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

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Active

Source

Characteristic

Refinability

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Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

REPLACED BY association reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3440838014	Paraplegia, brachydactyly, cone-shaped epiphysis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3440839018	Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3440840016	Fitzsimmons Guilbert syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3440841017	This syndrome has characteristics of slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3440838014	Paraplegia, brachydactyly, cone-shaped epiphysis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3440839018	Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3440840016	Fitzsimmons Guilbert syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3440841017	This syndrome has characteristics of slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core