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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
1587381000005115 Polydaktyli med neonatal kondrodystrofi,type II da Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Danish module (core metadata concept)


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 (disorder) false Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type Is a kort costa-dysplasi-gruppen (med eller uden polydaktyli) false Inferred relationship Some
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 Some
Short rib-polydactyly syndrome, Majewski type Is a Polydactyly false Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type Associated morphology Dysplasia true Inferred relationship Some 1
Short rib-polydactyly syndrome, Majewski type Finding site Skeletal system structure false Inferred relationship Some 1
Short rib-polydactyly syndrome, Majewski type Finding site Musculoskeletal structure of limb false Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type Associated morphology dysgenese false Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type Finding site Connective tissue (substance) false Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type Finding site Bone structure of rib true Inferred relationship Some 1
Short rib-polydactyly syndrome, Majewski type Occurrence Congenital false Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type Finding site Digit structure false Inferred relationship Some 3
Short rib-polydactyly syndrome, Majewski type Is a Polydaktyli med neonatal kondrodystrofi, type I false Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type Associated morphology kongenit dysplasi false Inferred relationship Some 2
Short rib-polydactyly syndrome, Majewski type Associated morphology Supernumerary structure false Inferred relationship Some 3
Short rib-polydactyly syndrome, Majewski type Associated morphology kongenit anomali false Inferred relationship Some 1
Short rib-polydactyly syndrome, Majewski type Finding site Bone structure false Inferred relationship Some 2
Short rib-polydactyly syndrome, Majewski type Is a kort costa-dysplasi-gruppen (med eller uden polydaktyli) false Inferred relationship Some
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 Some
Short rib-polydactyly syndrome, Majewski type Is a Congenital anomaly of rib (disorder) false Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type Is a Polydactyly false Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type Finding site Bone structure of rib false Inferred relationship Some 1
Short rib-polydactyly syndrome, Majewski type Associated morphology kongenit anomali false Inferred relationship Some 1
Short rib-polydactyly syndrome, Majewski type Finding site Bone structure false Inferred relationship Some 2
Short rib-polydactyly syndrome, Majewski type Associated morphology Supernumerary structure false Inferred relationship Some 1
Short rib-polydactyly syndrome, Majewski type Associated morphology kongenit dysplasi false Inferred relationship Some 2
Short rib-polydactyly syndrome, Majewski type Finding site Digit structure false Inferred relationship Some 1
Short rib-polydactyly syndrome, Majewski type Occurrence Congenital true Inferred relationship Some 1
Short rib-polydactyly syndrome, Majewski type Associated morphology dysgenese false Inferred relationship Some 4
Short rib-polydactyly syndrome, Majewski type Finding site Limb structure false Inferred relationship Some 4
Short rib-polydactyly syndrome, Majewski type Occurrence Congenital false Inferred relationship Some 5
Short rib-polydactyly syndrome, Majewski type Occurrence Congenital false Inferred relationship Some 6
Short rib-polydactyly syndrome, Majewski type Associated morphology dysgenese false Inferred relationship Some 6
Short rib-polydactyly syndrome, Majewski type Finding site Bone structure of rib false Inferred relationship Some 6
Short rib-polydactyly syndrome, Majewski type Finding site Bone structure false Inferred relationship Some 5
Short rib-polydactyly syndrome, Majewski type Associated morphology kongenit dysplasi false Inferred relationship Some 5
Short rib-polydactyly syndrome, Majewski type Is a Short rib polydactyly syndrome true Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type Associated morphology Morphologically abnormal structure false Inferred relationship Some 3
Short rib-polydactyly syndrome, Majewski type Associated morphology kongenit dysplasi false Inferred relationship Some 1
Short rib-polydactyly syndrome, Majewski type Occurrence Congenital false Inferred relationship Some 3
Short rib-polydactyly syndrome, Majewski type Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Short rib-polydactyly syndrome, Majewski type Occurrence Congenital true Inferred relationship Some 2
Short rib-polydactyly syndrome, Majewski type Finding site Digit structure true Inferred relationship Some 2
Short rib-polydactyly syndrome, Majewski type Finding site Bone structure of rib false Inferred relationship Some 3
Short rib-polydactyly syndrome, Majewski type Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Short rib-polydactyly syndrome, Majewski type Finding site Bone structure false Inferred relationship Some 1
Short rib-polydactyly syndrome, Majewski type Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Short rib-polydactyly syndrome, Majewski type Associated morphology Supernumerary structure true Inferred relationship Some 2
Short rib-polydactyly syndrome, Majewski type Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type Is a Autosomal recessive hereditary disorder false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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