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72922008: Short rib-polydactyly syndrome, Majewski type (disorder)

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
121125010 Short rib-polydactyly syndrome, Majewski type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
121126011 Short-rib syndrome, type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
813253017 Short rib-polydactyly syndrome, Majewski type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1233565010 Type II short rib polydactyly syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1233566011 Majewski-type short rib polydactyly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
121125010 Short rib-polydactyly syndrome, Majewski type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
121126011 Short-rib syndrome, type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
813253017 Short rib-polydactyly syndrome, Majewski type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1233565010 Type II short rib polydactyly syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1233566011 Majewski-type short rib polydactyly syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1233566011 Majewski-type short rib polydactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1233566011 Majewski-type short rib polydactyly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447551001000110 Kurzrippen-Polydaktylie-Syndrom Typ Majewski de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
884391000172111 syndrome des côtes courtes, polydactylie type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
993961000172113 syndrome des côtes courtes-polydactylie type Majewski fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
884391000172111 syndrome des côtes courtes, polydactylie type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
993961000172113 syndrome des côtes courtes-polydactylie type Majewski fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3447551001000110 Kurzrippen-Polydaktylie-Syndrom Typ Majewski de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Short rib-polydactyly syndrome, Majewski type Is a Congenital anomaly of rib false Inferred relationship Existential restriction modifier (core metadata concept)
Short rib-polydactyly syndrome, Majewski type Is a Short rib dysplasia group (with or without polydactyly) false Inferred relationship Existential restriction modifier (core metadata concept)
Short rib-polydactyly syndrome, Majewski type 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 Existential restriction modifier (core metadata concept)
Short rib-polydactyly syndrome, Majewski type Is a Polydactyly (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Short rib-polydactyly syndrome, Majewski type Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib-polydactyly syndrome, Majewski type Finding site Skeletal system structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib-polydactyly syndrome, Majewski type Finding site Musculoskeletal structure of limb (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Short rib-polydactyly syndrome, Majewski type Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept)
Short rib-polydactyly syndrome, Majewski type Finding site Connective tissue false Inferred relationship Existential restriction modifier (core metadata concept)
Short rib-polydactyly syndrome, Majewski type Finding site Bone structure of rib true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib-polydactyly syndrome, Majewski type Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Short rib-polydactyly syndrome, Majewski type Finding site Digit structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Short rib-polydactyly syndrome, Majewski type Is a Short rib-polydactyly syndrome, non-Majewski type false Inferred relationship Existential restriction modifier (core metadata concept)
Short rib-polydactyly syndrome, Majewski type Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Short rib-polydactyly syndrome, Majewski type Associated morphology Supernumerary structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Short rib-polydactyly syndrome, Majewski type Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib-polydactyly syndrome, Majewski type Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Short rib-polydactyly syndrome, Majewski type Is a Short rib dysplasia group (with or without polydactyly) false Inferred relationship Existential restriction modifier (core metadata concept)
Short rib-polydactyly syndrome, Majewski type 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 Existential restriction modifier (core metadata concept)
Short rib-polydactyly syndrome, Majewski type Is a Congenital anomaly of rib false Inferred relationship Existential restriction modifier (core metadata concept)
Short rib-polydactyly syndrome, Majewski type Is a Polydactyly (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Short rib-polydactyly syndrome, Majewski type Finding site Bone structure of rib false Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib-polydactyly syndrome, Majewski type Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib-polydactyly syndrome, Majewski type Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Short rib-polydactyly syndrome, Majewski type Associated morphology Supernumerary structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib-polydactyly syndrome, Majewski type Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Short rib-polydactyly syndrome, Majewski type Finding site Digit structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib-polydactyly syndrome, Majewski type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib-polydactyly syndrome, Majewski type Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Short rib-polydactyly syndrome, Majewski type Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Short rib-polydactyly syndrome, Majewski type Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Short rib-polydactyly syndrome, Majewski type Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Short rib-polydactyly syndrome, Majewski type Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Short rib-polydactyly syndrome, Majewski type Finding site Bone structure of rib false Inferred relationship Existential restriction modifier (core metadata concept) 6
Short rib-polydactyly syndrome, Majewski type Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Short rib-polydactyly syndrome, Majewski type Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 5
Short rib-polydactyly syndrome, Majewski type Is a Short rib polydactyly syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Short rib-polydactyly syndrome, Majewski type Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Short rib-polydactyly syndrome, Majewski type Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib-polydactyly syndrome, Majewski type Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Short rib-polydactyly syndrome, Majewski type Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib-polydactyly syndrome, Majewski type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short rib-polydactyly syndrome, Majewski type Finding site Digit structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short rib-polydactyly syndrome, Majewski type Finding site Bone structure of rib false Inferred relationship Existential restriction modifier (core metadata concept) 3
Short rib-polydactyly syndrome, Majewski type Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short rib-polydactyly syndrome, Majewski type Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib-polydactyly syndrome, Majewski type Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Short rib-polydactyly syndrome, Majewski type Associated morphology Supernumerary structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short rib-polydactyly syndrome, Majewski type Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Short rib-polydactyly syndrome, Majewski type Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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