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763279007: Facial dysmorphism, conductive hearing loss, heart defect 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
3638377014 Facial dysmorphism, conductive hearing loss, heart defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3638378016 Tyshchenko syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3638379012 Facial dysmorphism, conductive hearing loss, heart defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3638380010 Dysmorphism, conductive hearing loss, heart defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3638381014 A rare multiple congenital anomalies syndrome with characteristics of distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid's bow upper lip vermilion and small, low-set, posteriorly rotated ears), cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
2177431000172110 "syndrome de dysmorphie, surdité de transmission, malformation cardiaque" fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2177411000172119 "syndroom van faciale dysmorfie, geleidingsgehoorverlies en hartdefect" nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2177421000172112 "syndroom van dysmorfie, conductief gehoorverlies en hartdefect" nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Facial dysmorphism, conductive hearing loss, heart defect syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Facial dysmorphism, conductive hearing loss, heart defect syndrome Is a Congenital heart disease true Inferred relationship Some
Facial dysmorphism, conductive hearing loss, heart defect syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Facial dysmorphism, conductive hearing loss, heart defect syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Facial dysmorphism, conductive hearing loss, heart defect syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Facial dysmorphism, conductive hearing loss, heart defect syndrome Is a Congenital conductive hearing loss true Inferred relationship Some
Facial dysmorphism, conductive hearing loss, heart defect syndrome Interprets Functional observable false Inferred relationship Some
Facial dysmorphism, conductive hearing loss, heart defect syndrome Associated morphology Developmental anomaly false Inferred relationship Some 4
Facial dysmorphism, conductive hearing loss, heart defect syndrome Associated morphology Developmental anomaly false Inferred relationship Some 1
Facial dysmorphism, conductive hearing loss, heart defect syndrome Has interpretation Decreased true Inferred relationship Some 2
Facial dysmorphism, conductive hearing loss, heart defect syndrome Interprets Hearing true Inferred relationship Some 2
Facial dysmorphism, conductive hearing loss, heart defect syndrome Occurrence Congenital true Inferred relationship Some 4
Facial dysmorphism, conductive hearing loss, heart defect syndrome Associated morphology Developmental anomaly false Inferred relationship Some 3
Facial dysmorphism, conductive hearing loss, heart defect syndrome Occurrence Congenital true Inferred relationship Some 3
Facial dysmorphism, conductive hearing loss, heart defect syndrome Occurrence Congenital true Inferred relationship Some 1
Facial dysmorphism, conductive hearing loss, heart defect syndrome Finding site Face structure true Inferred relationship Some 3
Facial dysmorphism, conductive hearing loss, heart defect syndrome Finding site Ear structure true Inferred relationship Some 1
Facial dysmorphism, conductive hearing loss, heart defect syndrome Finding site Heart structure true Inferred relationship Some 4
Facial dysmorphism, conductive hearing loss, heart defect syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Facial dysmorphism, conductive hearing loss, heart defect syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Facial dysmorphism, conductive hearing loss, heart defect syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Facial dysmorphism, conductive hearing loss, heart defect syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Facial dysmorphism, conductive hearing loss, heart defect syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Facial dysmorphism, conductive hearing loss, heart defect syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Facial dysmorphism, conductive hearing loss, heart defect 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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