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763134002: Chondroectodermal dysplasia with night blindness syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3637973019 Chondroectodermal dysplasia with night blindness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403952013 Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by 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 patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403953015 Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterised by 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 patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3637972012 Chondroectodermal dysplasia with night blindness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3637973019 Chondroectodermal dysplasia with night blindness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5403952013 Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by 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 patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403953015 Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterised by 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 patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3385281001000111 Chondroektodermale Dysplasie mit Nachtblindheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5757911000241112 dysplasie chondroectodermique avec cécité nocturne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5757911000241112 dysplasie chondroectodermique avec cécité nocturne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3385281001000111 Chondroektodermale Dysplasie mit Nachtblindheit 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
Chondroectodermal dysplasia with night blindness syndrome (disorder) Is a Chondroectodermal dysplasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Chondroectodermal dysplasia with night blindness syndrome (disorder) Is a Night blindness true Inferred relationship Existential restriction modifier (core metadata concept)
Chondroectodermal dysplasia with night blindness syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Chondroectodermal dysplasia with night blindness syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Chondroectodermal dysplasia with night blindness syndrome (disorder) Finding site Retinal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Chondroectodermal dysplasia with night blindness syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Chondroectodermal dysplasia with night blindness syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Chondroectodermal dysplasia with night blindness syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Chondroectodermal dysplasia with night blindness syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Chondroectodermal dysplasia with night blindness syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Chondroectodermal dysplasia with night blindness syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Chondroectodermal dysplasia with night blindness syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Chondroectodermal dysplasia with night blindness syndrome (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Chondroectodermal dysplasia with night blindness syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Chondroectodermal dysplasia with night blindness syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Chondroectodermal dysplasia with night blindness syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Chondroectodermal dysplasia with night blindness syndrome (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Chondroectodermal dysplasia with night blindness syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Chondroectodermal dysplasia with night blindness syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Chondroectodermal dysplasia with night blindness syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Chondroectodermal dysplasia with night blindness syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Chondroectodermal dysplasia with night blindness syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Chondroectodermal dysplasia with night blindness syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Chondroectodermal dysplasia with night blindness syndrome (disorder) Finding site Nail unit structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Chondroectodermal dysplasia with night blindness syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 7
Chondroectodermal dysplasia with night blindness syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Chondroectodermal dysplasia with night blindness syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Chondroectodermal dysplasia with night blindness syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Chondroectodermal dysplasia with night blindness syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 6
Chondroectodermal dysplasia with night blindness syndrome (disorder) Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Chondroectodermal dysplasia with night blindness syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 6
Chondroectodermal dysplasia with night blindness syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Chondroectodermal dysplasia with night blindness syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 7
Chondroectodermal dysplasia with night blindness syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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