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27330009: Short rib-polydactyly syndrome, non-Majewski type (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Polydaktyli med neonatal kondrodystrofi, type I	Is a	Congenital anomaly of rib (disorder)	false	Inferred relationship	Some
Polydaktyli med neonatal kondrodystrofi, type I	Is a	Polydactyly	false	Inferred relationship	Some
Polydaktyli med neonatal kondrodystrofi, type I	Is a	Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported.	false	Inferred relationship	Some
Polydaktyli med neonatal kondrodystrofi, type I	Is a	kort costa-dysplasi-gruppen (med eller uden polydaktyli)	false	Inferred relationship	Some
Polydaktyli med neonatal kondrodystrofi, type I	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Polydaktyli med neonatal kondrodystrofi, type I	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Polydaktyli med neonatal kondrodystrofi, type I	Finding site	Bone structure of rib	false	Inferred relationship	Some	1
Polydaktyli med neonatal kondrodystrofi, type I	Occurrence	Congenital	false	Inferred relationship	Some
Polydaktyli med neonatal kondrodystrofi, type I	Finding site	Digit structure	false	Inferred relationship	Some	3
Polydaktyli med neonatal kondrodystrofi, type I	Finding site	Connective tissue (substance)	false	Inferred relationship	Some
Polydaktyli med neonatal kondrodystrofi, type I	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some
Polydaktyli med neonatal kondrodystrofi, type I	Associated morphology	dysgenese	false	Inferred relationship	Some
Polydaktyli med neonatal kondrodystrofi, type I	Associated morphology	Supernumerary structure	false	Inferred relationship	Some	3
Polydaktyli med neonatal kondrodystrofi, type I	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	2
Polydaktyli med neonatal kondrodystrofi, type I	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Polydaktyli med neonatal kondrodystrofi, type I	Finding site	Bone structure	false	Inferred relationship	Some	2
Polydaktyli med neonatal kondrodystrofi, type I	Finding site	Bone structure of rib	false	Inferred relationship	Some	1
Polydaktyli med neonatal kondrodystrofi, type I	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	2
Polydaktyli med neonatal kondrodystrofi, type I	Finding site	Bone structure	false	Inferred relationship	Some	2
Polydaktyli med neonatal kondrodystrofi, type I	Associated morphology	Supernumerary structure	false	Inferred relationship	Some	1
Polydaktyli med neonatal kondrodystrofi, type I	Finding site	Digit structure	false	Inferred relationship	Some	1
Polydaktyli med neonatal kondrodystrofi, type I	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Polydaktyli med neonatal kondrodystrofi, type I	Occurrence	Congenital	false	Inferred relationship	Some	1
Polydaktyli med neonatal kondrodystrofi, type I	Associated morphology	dysgenese	false	Inferred relationship	Some	4
Polydaktyli med neonatal kondrodystrofi, type I	Finding site	Limb structure	false	Inferred relationship	Some	4
Polydaktyli med neonatal kondrodystrofi, type I	Occurrence	Congenital	false	Inferred relationship	Some	5
Polydaktyli med neonatal kondrodystrofi, type I	Occurrence	Congenital	false	Inferred relationship	Some	6
Polydaktyli med neonatal kondrodystrofi, type I	Associated morphology	dysgenese	false	Inferred relationship	Some	6
Polydaktyli med neonatal kondrodystrofi, type I	Finding site	Bone structure of rib	false	Inferred relationship	Some	6
Polydaktyli med neonatal kondrodystrofi, type I	Finding site	Bone structure	false	Inferred relationship	Some	5
Polydaktyli med neonatal kondrodystrofi, type I	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	5

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Short rib-polydactyly syndrome, Majewski type	Is a	False	Polydaktyli med neonatal kondrodystrofi, type I	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

Description inactivation indicator reference set

GB English

US English

REPLACED BY association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
45694017	Short rib-polydactyly syndrome, non-Majewski type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
45695016	Short-rib syndrome, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
483501012	Type I short rib polydactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
483502017	Saldino Noonan short rib polydactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
757884010	Short rib-polydactyly syndrome, non-Majewski type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1198321000005110	Polydaktyli med neonatal kondrodystrofi, type I	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)