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763755009: syndroom van heupluxatie en faciale dysmorfie (aandoening)


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
3643662013 Dislocation of hip and facial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643663015 Dislocation of hip and facial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643754011 Dislocation of hip with dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643755012 Collins Pope syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6113801000146114 syndroom van Collins-Pope nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6838611000146117 syndroom van heupluxatie en faciale dysmorfie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6838621000146110 syndroom van heupluxatie en faciale dysmorfie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3643758014 A rare multiple congenital anomalies syndrome with manifestations of bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dislocation of hip and facial dysmorphism syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Dislocation of hip and facial dysmorphism syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Dislocation of hip and facial dysmorphism syndrome Is a Congenital dislocation of hip true Inferred relationship Some
Dislocation of hip and facial dysmorphism syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Dislocation of hip and facial dysmorphism syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 2
Dislocation of hip and facial dysmorphism syndrome Occurrence Congenital true Inferred relationship Some 2
Dislocation of hip and facial dysmorphism syndrome Finding site Face structure true Inferred relationship Some 2
Dislocation of hip and facial dysmorphism syndrome Occurrence Congenital true Inferred relationship Some 1
Dislocation of hip and facial dysmorphism syndrome Associated morphology congenitale luxatie (afwijkende morfologie) false Inferred relationship Some 1
Dislocation of hip and facial dysmorphism syndrome Finding site Hip joint structure true Inferred relationship Some 1
Dislocation of hip and facial dysmorphism syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Dislocation of hip and facial dysmorphism syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Dislocation of hip and facial dysmorphism syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Dislocation of hip and facial dysmorphism syndrome Associated morphology Dislocation true Inferred relationship Some 1
Dislocation of hip and facial dysmorphism 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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