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770788000: Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3702797011 Tall stature, scoliosis, macrodactyly of great toe syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3702798018 Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3702799014 Tall stature, scoliosis, macrodactyly of hallux syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3702800013 A rare genetic overgrowth or tall stature syndrome with skeletal involvement and characteristics of early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis. There is evidence the disease is caused by heterozygous mutation in the NPR2 gene on chromosome 9p13. 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
Tall stature, scoliosis, macrodactyly of great toe syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Tall stature, scoliosis, macrodactyly of great toe syndrome Is a Perodactylia of great toe true Inferred relationship Some
Tall stature, scoliosis, macrodactyly of great toe syndrome Occurrence Congenital true Inferred relationship Some 2
Tall stature, scoliosis, macrodactyly of great toe syndrome Is a Dysostosis true Inferred relationship Some
Tall stature, scoliosis, macrodactyly of great toe syndrome Is a Macrodactyly of toe (disorder) true Inferred relationship Some
Tall stature, scoliosis, macrodactyly of great toe syndrome Is a Multiple malformation syndrome with early overgrowth true Inferred relationship Some
Tall stature, scoliosis, macrodactyly of great toe syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Tall stature, scoliosis, macrodactyly of great toe syndrome Occurrence Congenital true Inferred relationship Some 1
Tall stature, scoliosis, macrodactyly of great toe syndrome Finding site Bone structure true Inferred relationship Some 1
Tall stature, scoliosis, macrodactyly of great toe syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 1
Tall stature, scoliosis, macrodactyly of great toe syndrome Finding site Great toe structure (body structure) true Inferred relationship Some 2
Tall stature, scoliosis, macrodactyly of great toe syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Tall stature, scoliosis, macrodactyly of great toe syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Tall stature, scoliosis, macrodactyly of great toe syndrome Associated morphology Hypertrophy true Inferred relationship Some 2
Tall stature, scoliosis, macrodactyly of great toe syndrome Associated morphology Dysplasia true Inferred relationship Some 1
Tall stature, scoliosis, macrodactyly of great toe syndrome Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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