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74928006: Camptomelic dysplasia (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
124444012 Camptomelic dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
145771000077118 dysplasie campomélique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
419251000077110 dysplasie campomélique (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
4551747012 Campomelic dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4551748019 Campomelic dysplasia with autosomal sex reversal en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
815481011 Camptomelic dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4551749010 A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localized to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4551750010 A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localised to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Camptomelic dysplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Camptomelic dysplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Camptomelic dysplasia survenue (attribut) congénital true Inferred relationship Some 3
Camptomelic dysplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Camptomelic dysplasia localisation d'une constatation (attribut) Entire right lower extremity true Inferred relationship Some 3
Camptomelic dysplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Camptomelic dysplasia survenue (attribut) congénital true Inferred relationship Some 1
Camptomelic dysplasia survenue (attribut) congénital true Inferred relationship Some 2
Camptomelic dysplasia localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 2
Camptomelic dysplasia morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Camptomelic dysplasia localisation d'une constatation (attribut) Entire left lower extremity true Inferred relationship Some 1
Camptomelic dysplasia morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 4
Camptomelic dysplasia localisation d'une constatation (attribut) Skeletal system structure true Inferred relationship Some 4
Camptomelic dysplasia interprète (attribut) Height / growth measure true Inferred relationship Some 5
Camptomelic dysplasia est un(e) (attribut) Congenital anomaly of lower limb false Inferred relationship Some
Camptomelic dysplasia morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Camptomelic dysplasia est un(e) (attribut) déformation d'un os false Inferred relationship Some
Camptomelic dysplasia est un(e) (attribut) Bent bone dysplasia group true Inferred relationship Some
Camptomelic dysplasia est un(e) (attribut) achondrogenèse (trouble) true Inferred relationship Some
Camptomelic dysplasia est un(e) (attribut) Longitudinal deficiency of lower limb true Inferred relationship Some
Camptomelic dysplasia est un(e) (attribut) Congenital anomaly of lower limb false Inferred relationship Some
Camptomelic dysplasia morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Camptomelic dysplasia morphologie associée (attribut) Abnormally short growth false Inferred relationship Some 2
Camptomelic dysplasia morphologie associée (attribut) Abnormally short growth true Inferred relationship Some 3
Camptomelic dysplasia morphologie associée (attribut) Abnormally short growth false Inferred relationship Some 1
Camptomelic dysplasia localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 1
Camptomelic dysplasia localisation d'une constatation (attribut) Structure of left lower limb (body structure) false Inferred relationship Some 2
Camptomelic dysplasia localisation d'une constatation (attribut) Structure of right lower limb (body structure) false Inferred relationship Some 3
Camptomelic dysplasia est un(e) (attribut) Deformity of limb (finding) false Inferred relationship Some
Camptomelic dysplasia est un(e) (attribut) Deformity of lower limb (finding) false Inferred relationship Some
Camptomelic dysplasia est un(e) (attribut) Disorder of lower extremity (disorder) false Inferred relationship Some
Camptomelic dysplasia survenue (attribut) congénital true Inferred relationship Some 4
Camptomelic dysplasia localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 4
Camptomelic dysplasia survenue (attribut) congénital false Inferred relationship Some 5
Camptomelic dysplasia localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 5
Camptomelic dysplasia morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 4
Camptomelic dysplasia morphologie associée (attribut) Congenital hypoplasia false Inferred relationship Some 5
Camptomelic dysplasia morphologie associée (attribut) dysplasie false Inferred relationship Some 1
Camptomelic dysplasia localisation d'une constatation (attribut) Skeletal system structure false Inferred relationship Some 1
Camptomelic dysplasia morphologie associée (attribut) Abnormally short growth false Inferred relationship Some 6
Camptomelic dysplasia survenue (attribut) congénital false Inferred relationship Some 7
Camptomelic dysplasia survenue (attribut) congénital false Inferred relationship Some 6
Camptomelic dysplasia morphologie associée (attribut) Abnormally short growth false Inferred relationship Some 7
Camptomelic dysplasia localisation d'une constatation (attribut) Entire left lower extremity false Inferred relationship Some 6
Camptomelic dysplasia localisation d'une constatation (attribut) Entire right lower extremity false Inferred relationship Some 7
Camptomelic dysplasia localisation d'une constatation (attribut) Both upper extremities false Inferred relationship Some
Camptomelic dysplasia morphologie associée (attribut) Abnormally short growth true Inferred relationship Some 1
Camptomelic dysplasia morphologie associée (attribut) dysplasie true Inferred relationship Some 2
Camptomelic dysplasia survenue (attribut) congénital false Inferred relationship Some
Camptomelic dysplasia localisation d'une constatation (attribut) Skeletal system structure false Inferred relationship Some 2
Camptomelic dysplasia localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 1
Camptomelic dysplasia localisation d'une constatation (attribut) Both lower extremities (body structure) false Inferred relationship Some 1
Camptomelic dysplasia est un(e) (attribut) Bilateral congenital deformity of lower limbs true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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