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764697003: Verloove Vanhorick Brubakk 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
3654717019 Verloove Vanhorick Brubakk syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3654718012 Cleft lip, limb and heart malformation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3654719016 Verloove Vanhorick Brubakk syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3654247018 A multiple congenital anomalies/dysmorphic syndrome with characteristics of multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligo/polysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
908631000172116 syndrome de fente, malformations du coeur et des membres 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): Acceptable (foundation metadata concept)
989841000172115 syndrome de Verloove-Van Horick-Brubakk fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
1945721000172113 "syndrome de fente, malformations du cœur et des membres" 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): Acceptable (foundation metadata concept)
879441000172116 syndroom van Verloove-Vanhorick-Brubakk nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)
965861000172116 gespleten lip, ledemaat- en hartmalformatiessyndroom 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)
1945701000172118 syndroom van hazenlip en misvorming van extremiteit en hart 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)
1945711000172115 Verloove-Vanhorick-Brubakk-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
1945731000172111 "syndroom van cheiloschisis, extremiteit- en hartmalformatie" 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
Verloove Vanhorick Brubakk syndrome Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Verloove Vanhorick Brubakk syndrome Is a Congenital heart disease true Inferred relationship Some
Verloove Vanhorick Brubakk syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Verloove Vanhorick Brubakk syndrome Associated morphology Developmental anomaly false Inferred relationship Some 3
Verloove Vanhorick Brubakk syndrome Occurrence Congenital true Inferred relationship Some 3
Verloove Vanhorick Brubakk syndrome Finding site Face structure false Inferred relationship Some 3
Verloove Vanhorick Brubakk syndrome Finding site Heart structure true Inferred relationship Some 3
Verloove Vanhorick Brubakk syndrome Associated morphology Developmental anomaly false Inferred relationship Some 2
Verloove Vanhorick Brubakk syndrome Finding site Face structure true Inferred relationship Some 2
Verloove Vanhorick Brubakk syndrome Occurrence Congenital true Inferred relationship Some 2
Verloove Vanhorick Brubakk syndrome Associated morphology Developmental anomaly false Inferred relationship Some 1
Verloove Vanhorick Brubakk syndrome Occurrence Congenital true Inferred relationship Some 1
Verloove Vanhorick Brubakk syndrome Finding site Bone structure of extremity true Inferred relationship Some 1
Verloove Vanhorick Brubakk syndrome Finding site Heart structure false Inferred relationship Some 2
Verloove Vanhorick Brubakk syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Verloove Vanhorick Brubakk syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Verloove Vanhorick Brubakk syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Verloove Vanhorick Brubakk syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Verloove Vanhorick Brubakk syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Verloove Vanhorick Brubakk syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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