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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 Reference Sets
124444012 Camptomelic dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
815481011 Camptomelic dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
4551747012 Campomelic dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
4551748019 Campomelic dysplasia with autosomal sex reversal en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
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 US English: Preferred (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)
1465581000005114 Kamptomelisk dysplasi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept) Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Camptomelic dysplasia Is a Bent bone dysplasia group true Inferred relationship Some
Camptomelic dysplasia Is a Achondrogenesis true Inferred relationship Some
Camptomelic dysplasia Associated morphology Dysplasia false Inferred relationship Some 1
Camptomelic dysplasia Finding site Skeletal system structure false Inferred relationship Some 1
Camptomelic dysplasia Finding site Both upper extremities false Inferred relationship Some
Camptomelic dysplasia Associated morphology Abnormally short growth true Inferred relationship Some 1
Camptomelic dysplasia Associated morphology Dysplasia true Inferred relationship Some 2
Camptomelic dysplasia Occurrence Congenital false Inferred relationship Some
Camptomelic dysplasia Finding site Skeletal system structure false Inferred relationship Some 2
Camptomelic dysplasia Finding site Bone structure false Inferred relationship Some 1
Camptomelic dysplasia Finding site Both lower extremities false Inferred relationship Some 1
Camptomelic dysplasia Is a Congenital anomaly of lower limb (disorder) false Inferred relationship Some
Camptomelic dysplasia Associated morphology kongenit dysplasi false Inferred relationship Some 1
Camptomelic dysplasia Is a Deformity of bone false Inferred relationship Some
Camptomelic dysplasia Is a Longitudinal deficiency of lower limb true Inferred relationship Some
Camptomelic dysplasia Is a Congenital anomaly of lower limb (disorder) false Inferred relationship Some
Camptomelic dysplasia Associated morphology kongenit dysplasi false Inferred relationship Some 1
Camptomelic dysplasia Associated morphology Abnormally short growth false Inferred relationship Some 2
Camptomelic dysplasia Associated morphology Abnormally short growth true Inferred relationship Some 3
Camptomelic dysplasia Associated morphology Abnormally short growth false Inferred relationship Some 1
Camptomelic dysplasia Finding site Bone structure false Inferred relationship Some 1
Camptomelic dysplasia Finding site Structure of left lower limb (body structure) false Inferred relationship Some 2
Camptomelic dysplasia Finding site Structure of right lower limb (body structure) false Inferred relationship Some 3
Camptomelic dysplasia Is a Deformity of limb (finding) false Inferred relationship Some
Camptomelic dysplasia Is a Deformity of lower limb (finding) false Inferred relationship Some
Camptomelic dysplasia Is a Disorder of lower extremity (disorder) false Inferred relationship Some
Camptomelic dysplasia Occurrence Congenital true Inferred relationship Some 4
Camptomelic dysplasia Finding site Bone structure false Inferred relationship Some 4
Camptomelic dysplasia Occurrence Congenital false Inferred relationship Some 5
Camptomelic dysplasia Finding site Bone structure false Inferred relationship Some 5
Camptomelic dysplasia Associated morphology kongenit dysplasi false Inferred relationship Some 4
Camptomelic dysplasia Associated morphology kongenit hypoplasi false Inferred relationship Some 5
Camptomelic dysplasia Associated morphology Abnormally short growth false Inferred relationship Some 6
Camptomelic dysplasia Occurrence Congenital false Inferred relationship Some 7
Camptomelic dysplasia Occurrence Congenital false Inferred relationship Some 6
Camptomelic dysplasia Associated morphology Abnormally short growth false Inferred relationship Some 7
Camptomelic dysplasia Finding site Entire left lower extremity false Inferred relationship Some 6
Camptomelic dysplasia Finding site Entire right lower extremity false Inferred relationship Some 7
Camptomelic dysplasia Is a Bilateral congenital deformity of lower limbs true Inferred relationship Some
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 Occurrence Congenital true Inferred relationship Some 3
Camptomelic dysplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Camptomelic dysplasia Finding site Entire right lower extremity true Inferred relationship Some 3
Camptomelic dysplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Camptomelic dysplasia Occurrence Congenital true Inferred relationship Some 1
Camptomelic dysplasia Occurrence Congenital true Inferred relationship Some 2
Camptomelic dysplasia Finding site Bone structure true Inferred relationship Some 2
Camptomelic dysplasia Associated morphology kongenit dysplasi false Inferred relationship Some 2
Camptomelic dysplasia Finding site Entire left lower extremity true Inferred relationship Some 1
Camptomelic dysplasia Associated morphology Hypoplasia true Inferred relationship Some 4
Camptomelic dysplasia Finding site Skeletal system structure true Inferred relationship Some 4
Camptomelic dysplasia Interprets Height / growth measure true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Danish translated concepts reference set (foundation metadata concept)

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