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763134002: Chondroectodermal dysplasia with night blindness syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3637972012 Chondroectodermal dysplasia with night blindness syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3637973019 Chondroectodermal dysplasia with night blindness syndrome en Synonym Active Case insensitive SNOMED CT core
3657266014 A rare genetic bone development disorder with characteristics of proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically presents with delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chondroectodermal dysplasia with night blindness syndrome Associated morphology Dysplasia true Inferred relationship Some 3
Chondroectodermal dysplasia with night blindness syndrome Associated morphology Dysplasia true Inferred relationship Some 1
Chondroectodermal dysplasia with night blindness syndrome Associated morphology Dysplasia true Inferred relationship Some 2
Chondroectodermal dysplasia with night blindness syndrome Finding site Hair structure true Inferred relationship Some 6
Chondroectodermal dysplasia with night blindness syndrome Finding site Nail unit structure true Inferred relationship Some 7
Chondroectodermal dysplasia with night blindness syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 7
Chondroectodermal dysplasia with night blindness syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 5
Chondroectodermal dysplasia with night blindness syndrome Pathological process Pathological developmental process true Inferred relationship Some 5
Chondroectodermal dysplasia with night blindness syndrome Pathological process Pathological developmental process true Inferred relationship Some 7
Chondroectodermal dysplasia with night blindness syndrome Occurrence Congenital true Inferred relationship Some 6
Chondroectodermal dysplasia with night blindness syndrome Finding site Tooth structure true Inferred relationship Some 5
Chondroectodermal dysplasia with night blindness syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 6
Chondroectodermal dysplasia with night blindness syndrome Pathological process Pathological developmental process true Inferred relationship Some 6
Chondroectodermal dysplasia with night blindness syndrome Occurrence Congenital true Inferred relationship Some 7
Chondroectodermal dysplasia with night blindness syndrome Occurrence Congenital true Inferred relationship Some 5
Chondroectodermal dysplasia with night blindness syndrome Is a Chondroectodermal dysplasia true Inferred relationship Some
Chondroectodermal dysplasia with night blindness syndrome Is a Night blindness true Inferred relationship Some
Chondroectodermal dysplasia with night blindness syndrome Occurrence Congenital true Inferred relationship Some 4
Chondroectodermal dysplasia with night blindness syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Chondroectodermal dysplasia with night blindness syndrome Finding site Retinal structure true Inferred relationship Some 4
Chondroectodermal dysplasia with night blindness syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 1
Chondroectodermal dysplasia with night blindness syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 2
Chondroectodermal dysplasia with night blindness syndrome Occurrence Congenital true Inferred relationship Some 3
Chondroectodermal dysplasia with night blindness syndrome Finding site Skin structure true Inferred relationship Some 2
Chondroectodermal dysplasia with night blindness syndrome Occurrence Congenital true Inferred relationship Some 2
Chondroectodermal dysplasia with night blindness syndrome Occurrence Congenital true Inferred relationship Some 1
Chondroectodermal dysplasia with night blindness syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Chondroectodermal dysplasia with night blindness syndrome Finding site Bone structure true Inferred relationship Some 1
Chondroectodermal dysplasia with night blindness syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Chondroectodermal dysplasia with night blindness syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Chondroectodermal dysplasia with night blindness syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 3
Chondroectodermal dysplasia with night blindness syndrome Finding site Bone structure false Inferred relationship Some 3
Chondroectodermal dysplasia with night blindness syndrome Finding site Ectoderm structure false Inferred relationship Some 1
Chondroectodermal dysplasia with night blindness syndrome Finding site Ectoderm structure true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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