FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

773667003: Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3725585011 Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3725586012 Hypertelorism, preauricular sinus, punctual pits, deafness syndrome en Synonym Active Case insensitive SNOMED CT core
3725587015 HPPD (hypertelorism, preauricular sinus, punctual pits, deafness) syndrome en Synonym Active Case sensitive SNOMED CT core
3725588013 Hypertelorism, preauricular sinus, punctual pits, hearing loss syndrome en Synonym Active Case insensitive SNOMED CT core
3725589017 A rare developmental defect during embryogenesis syndrome with characteristics of hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Finding site Preauricular region structure true Inferred relationship Some 1
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Is a Hypertelorism true Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Is a Hearing loss associated with syndrome true Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Occurrence Congenital true Inferred relationship Some 2
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Associated morphology Preauricular sinus true Inferred relationship Some 1
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Is a Preauricular fistula true Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Finding site Ear structure true Inferred relationship Some 3
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Finding site Sphenoid bone structure true Inferred relationship Some 2
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Occurrence Congenital true Inferred relationship Some 1
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Occurrence Congenital true Inferred relationship Some 3
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Is a Disorder of ear true Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Interprets Hearing true Inferred relationship Some 4
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Is a Congenital hearing disorder true Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Is a Developmental hereditary disorder true Inferred relationship Some

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

Back to Start