FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server  |   User: [n/a]

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 Reference Sets
3637972012 Chondroectodermal dysplasia with night blindness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3637973019 Chondroectodermal dysplasia with night blindness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)

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 Some
Chondroectodermal dysplasia with night blindness syndrome (disorder) Is a Night blindness true Inferred relationship Some
Chondroectodermal dysplasia with night blindness syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Chondroectodermal dysplasia with night blindness syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Chondroectodermal dysplasia with night blindness syndrome (disorder) Finding site Retinal structure true Inferred relationship Some 4
Chondroectodermal dysplasia with night blindness syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Chondroectodermal dysplasia with night blindness syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Chondroectodermal dysplasia with night blindness syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Chondroectodermal dysplasia with night blindness syndrome (disorder) Finding site Skin structure true Inferred relationship Some 2
Chondroectodermal dysplasia with night blindness syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Chondroectodermal dysplasia with night blindness syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Chondroectodermal dysplasia with night blindness syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Chondroectodermal dysplasia with night blindness syndrome (disorder) Finding site Bone structure true Inferred relationship Some 1
Chondroectodermal dysplasia with night blindness syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Chondroectodermal dysplasia with night blindness syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Chondroectodermal dysplasia with night blindness syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 3
Chondroectodermal dysplasia with night blindness syndrome (disorder) Finding site Bone structure false Inferred relationship Some 3
Chondroectodermal dysplasia with night blindness syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Some 1
Chondroectodermal dysplasia with night blindness syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Some 3
Chondroectodermal dysplasia with night blindness syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 3
Chondroectodermal dysplasia with night blindness syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Chondroectodermal dysplasia with night blindness syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Chondroectodermal dysplasia with night blindness syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 6
Chondroectodermal dysplasia with night blindness syndrome (disorder) Finding site Nail unit structure true Inferred relationship Some 7
Chondroectodermal dysplasia with night blindness syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 7
Chondroectodermal dysplasia with night blindness syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 5
Chondroectodermal dysplasia with night blindness syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Chondroectodermal dysplasia with night blindness syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 7
Chondroectodermal dysplasia with night blindness syndrome (disorder) Occurrence Congenital true Inferred relationship Some 6
Chondroectodermal dysplasia with night blindness syndrome (disorder) Finding site Tooth structure true Inferred relationship Some 5
Chondroectodermal dysplasia with night blindness syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 6
Chondroectodermal dysplasia with night blindness syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Chondroectodermal dysplasia with night blindness syndrome (disorder) Occurrence Congenital true Inferred relationship Some 7
Chondroectodermal dysplasia with night blindness syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start