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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
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 Some
Short rib-polydactyly syndrome, Majewski type Is a Short rib dysplasia group (with or without polydactyly) false Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type Is a A rare, rhizo-mesomelic dysplasia characterised by distinct facial features (flat midface, flat small nose, anteverted nares, low set ears, protuberant eyes, and small mouth with long upper lip), markedly short limbs with relatively normal hands and feet, short ribs with broad metaphyses and small bell-shaped thorax with protuberant abdomen. Vertebral bodies are flat, creating a distinctive pinched appearance in lateral radiographic views. Cleft palate, micrognathia, bifid tongue and brachyclinodactyly with some soft tissue syndactyly have been reported in few patients. It is mostly a neonatally lethal condition. Affected individuals who survive the neonatal period present with severe global developmental delay, severe skeletal dysplasia, high myopia and mild to moderate hearing loss. 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 anomalie du développement false Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type Finding site Connective tissue 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 Short rib-polydactyly syndrome, non-Majewski type false Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type Associated morphology Congenital dysplasia 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 anomalie congénitale 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 Short rib dysplasia group (with or without polydactyly) false Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type Is a A rare, rhizo-mesomelic dysplasia characterised by distinct facial features (flat midface, flat small nose, anteverted nares, low set ears, protuberant eyes, and small mouth with long upper lip), markedly short limbs with relatively normal hands and feet, short ribs with broad metaphyses and small bell-shaped thorax with protuberant abdomen. Vertebral bodies are flat, creating a distinctive pinched appearance in lateral radiographic views. Cleft palate, micrognathia, bifid tongue and brachyclinodactyly with some soft tissue syndactyly have been reported in few patients. It is mostly a neonatally lethal condition. Affected individuals who survive the neonatal period present with severe global developmental delay, severe skeletal dysplasia, high myopia and mild to moderate hearing loss. false Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type Is a Congenital anomaly of rib 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 anomalie congénitale 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 Congenital dysplasia 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 anomalie du développement 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 anomalie du développement 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 Congenital dysplasia 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 Congenital dysplasia 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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